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Change in mitochondrial endogenous superoxide production in smokers related to basal superoxide amount and mitochondrial DNA dynamics

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(1)CHANGE  IN  MITOCHONDRIAL  ENDOGENOUS  SUPEROXIDE  PRODUCTION  IN  SMOKERS   RELATED  TO  BASAL  SUPEROXIDE  AMOUNT  AND  MITOCHONDRIAL  DNA  DYNAMICS                                    .      .  . Maria  del  Pilar  Miranda  Vergara  . A  thesis  submitted  to  the  graduate  faculty  in  partial  fulfillment  of  the  requirements  for  the   degree  of  Master  of  Science  .   Director   Helena  Groot  de  Restrepo         Codirector   Diana  M.  Narváez               Laboratorio  de  Genética  Humana   Universidad  de  los  Andes    .       April  2012   Bogotá  .  .

(2) TABLE  OF  CONTENTS   ACKNOWLEGEMENTS  . 3  . ABSTRACT  (SPANISH)  . 4  . Manuscript  in  progress:  CHANGE  IN  MITOCHONDRIAL  ENDOGENOUS  SUPEROXIDE  PRODUCTION  IN   SMOKERS  RELATED  TO  BASAL  SUPEROXIDE  AMOUNT  AND  MITOCHONDRIAL  DNA  DYNAMICS   5   FINAL  COMMENTS  . 20  . SUPPLEMENTARY  MATERIAL   SUPPLEMENTARY  MATERIAL  1:  OCCUPATIONAL  SURVEY   SUPPLEMENTARY  MATERIAL  2:  INFORMED  CONSENT   SUPPLEMENTARY  MATERIAL  3:  ABSTRACT  MONTREAL  CONGRESS  . 21   21   23   24  .      .  .                                                              .  . 2  .

(3) ACKNOWLEGEMENTS     First  of  all  I  want  to  thank  Helena  Groot  and  Diana  Narváez  for  their  unconditional  help  and  support,  for   their   teachings   and   advice.   To   Bennet   Van   Houten   for   his   help   and   advice   through   out   the   process   to   standardize   the   QPCR   technique.   To   Nicolás   Giraldo   for   his   contributions   in   the   development   and   execution  of  the  protocol  to  quantify  mitochondrial  superoxides.         I  would  also  like  to  acknowledge  John  Mario  Gonzalez  from  the  laboratory  of  basic  medical  sciences  of   the   university   for   letting   me   use   the   flow   cytometer   and   to   Maria   Mercedes   Zambrano,   Patricia   del   Portillo  and  Martha  Cepeda  from  CorpoGen  for  letting  me  borrow  the  fluorescence  microplate  reader.       Finally  I  would  like  to  thank  the  volunteers  of  this  study  for  their  participation  and  to  the  members  of   my  lab  for  their  critical  review  of  my  work  and  making  the  lab  a  great  place  to  be.    .    .  .  . 3  .

(4) ABSTRACT  (SPANISH)     El  estrés  oxidativo  causa  lesiones  deletéreas  en  los  componentes  celulares  que  pueden  llevar  a  un  mal   funcionamiento   en   la   cadena   de   transporte   de   electrones   en   la   mitocondria.   Debido   a   que   esta   disfunción   puede   incrementar   la   producción   de   superóxidos     mitocondriales   y   que   éstos   causan   rupturas   en   el   ADN,   se   ha   propuesto   el   ADN   de   este   organelo   como   un   buen   biomarcador   del   estrés   oxidativo.  El  cigarrillo  ha  sido  asociado  a  diferentes  patologías  a  nivel  sistémico,  y  en  muchas  de  éstas   se   ha   encontrado   un   incremento   en   el   estrés   oxidativo   de   las   células.   Para   estudiar   esta   hipótesis,   el   objetivo   del   estudio   era   evaluar   el   efecto   de   fumar   cigarrillo   en   la   cantidad   de   superóxidos   en   la   mitocondria  y  el  contenido  y  daño  del  ADN  mitocondrial.  Se  aislaron  linfocitos  de  sangre  periférica  de   17    hombres  fumadores  y  32  no  fumadores.  Las  lesiones  y  el  contenido  de  ADN  se  evaluaron  usando  la   técnica  de  PCR  cuantitativa  de  fragmentos  largos  y  la  cuantificación  de  superóxidos  mitocondriales  se   determinó  por  citometría  de  flujo  con  el  fluorocromo  MitoSOX.  También  se  trataron  los  linfocitos  con   doxorubicina   para   inducir   estrés   oxidativo   y   se   cuantificó   el   incremento   en   la   producción   de   superóxidos.   No   se   encontraron   diferencias   entre   fumadores   y   no   fumadores   indicando   que   el   ADN   mitocondrial   no   es   un   biomarcador   tan   sensible   del   efecto   de   estrés   oxidativo   en   linfocitos   de   sangre   periférica.  Sin  embargo,  encontramos  que  la  cantidad  de  superóxidos  basales,  el  contenido  y  lesiones  en   el  ADN  mitocondrial  determinan  el  incremento  en  la  producción  de  superóxidos  en  las  células  tratadas   con   doxorubicina.   Esto   evidencia   que   en   los   linfocitos   humanos   el   ADN   mitocondrial   tiene   diferentes   mecanismos   para   controlar   el   incremento   del   estrés   oxidativo.   Por   un   lado,   cuando   la   cantidad   de   superóxidos   basales   es   más   alta,   se   producen   menos   superóxidos   después   de   tratar   las   células   con   doxorubicina,   sugiriendo   que   estas   células   tienen   los   mecanismos   de   detoxificación   o   reparación   aumentados.  Por  otro  lado,  mayor  cantidad  de  DNA  mitocondrial  también  se  encontró  asociada  con  una   menor   producción   de   superóxidos,   probablemente   porque   evita   la   disfunción   mitocondrial   compensando  el  ADN  defectuoso.  Finalmente,  nuestros  resultados  soportan  la  teoría  del  ciclo  vicioso  ya   que  los  voluntarios  que  presentaban  mayor  cantidad  de  lesiones  en  el  ADN  generaban  más  superóxidos   después  del  tratamiento.                .  .  . 4  .

(5) Manuscript  in  progress:  CHANGE  IN  MITOCHONDRIAL  ENDOGENOUS  SUPEROXIDE  PRODUCTION  IN   SMOKERS  RELATED  TO  BASAL  SUPEROXIDE  AMOUNT  AND  MITOCHONDRIAL  DNA  DYNAMICS     ABSTRACT     Oxidative   stress   causes   deleterious   lesions   to   cell   components   that   can   induce   dysfunctions   in   the   mitochondrial   electron   transport   chain.   This   impairment   can   increase   mitochondrial   superoxide   production   and,   due   to   its   proximity,   mitochondrial   DNA   has   been   proposed   as   a   good   biomarker   of   oxidative  stress.  Cigarette  smoking  is  associated  with  different  pathologies  in  a  systemic  level  and  many   of  these  have  been  associated  to  an  increase  in  oxidative  stress.  The  aim  of  this  study  was  to  evaluate   the   effect   of   cigarette   smoking   in   mitochondrial   DNA   content,   DNA   lesions   and   mitochondrial   superoxide   production.     To   achieve   this,   peripheral   blood   lymphocytes   were   studied   from   17   healthy   smokers   and   32   non-­‐smokers.   Mitochondrial   DNA   lesions   and   content   was   evaluated   with   the   long   amplicon   quantitative   PCR   and   superoxide   quantification   was   done   by   flow   cytometry   using   MitoSOX   fluoroprobe.  In  addition,  isolated  lymphocytes  were  treated  with  doxorubicin  to  induce  oxidative  stress   and   MitoSOX   fluorescence   was   quantified.   We   found   no   differences   between   smokers   and   non-­‐smokers   indicating   that   mitochondrial   DNA   is   not   a   very   sensible   biomarker   of   cigarette   smoke   effect   in   peripheral   blood   lymphocytes,   but   we   report   that   the   basal   superoxide   amount   and   mitochondrial   DNA   lesions  and  content  determine  the  amount  of  superoxides  produced  by  mitochondria  after  doxorubicin   stimulation.  This  evidences  that  in  human  lymphocytes  mitochondrial  DNA  has  different  mechanisms  to   control  the  superoxide  production.  First,  when  basal  superoxide  quantifications  are  higher,  there  is  less   superoxide  production  after  the  treatment,  suggesting  that  these  cells  have  better  mechanisms  to   avoid   mitochondrial   dysfunction.   Second,   increased   mitochondrial   DNA   content   cause   less   superoxide   production  probably  because  it  compensates  the  damage  in  the  DNA  and  reduces  the  electron  transport   chain   impairment.   Finally,   our   results   support   the   theory   of   the   vicious   cycle   as   people   with   more   mitochondrial  DNA  lesions  presented  more  superoxide  production  after  treatment.          .  . 5  .

(6) INTRODUCTION     Mitochondria   are   intracellular   organelles   with   several   functions,   including   the   production   of   ATP   through   oxidative   phosphorylation.   They   have   their   own   circular,   double   stranded   DNA   (mtDNA);   which  in  humans  is  composed  of  16,569bp  and  codes  for  22tRNAs,  2rRNAs  and13  polypeptides,  which   are  part  of  the  Electron  Transport  Chain  (ETC)  enzymatic  complexes  [1].  Previous  estimates  based  on   isolated  highly  energized  mitochondria  suggested  that  as  much  as  2-­‐4%  of  the  oxygen  consumed  was   converted   into   free   oxygen   radicals   [2,   3];   however,   more   recent   studies   suggest   that   under   normal   physiological  cellular  conditions,  superoxide  (𝑂!! )  production  is  one  or  two  orders  of  magnitude  lower   [4].       Mitochondrial   dysfunction   and   oxidative   stress   have   been   associated   with   ageing,   cancer,   neurodegenerative   and   cardiovascular   diseases,   among   others   [4-­‐8].   At   the   cellular   level,   oxidative   stress   causes   the   activation   of   redox-­‐sensitive   transcription   factors   that   lead   to   the   production   of   proinflamatory   chemokines,   activation   of   mitogenic   protein   kinases,   opening   of   ion   channels,   lipid   peroxidation  and  DNA  oxidation  [9].       Oxidative   stress   conditions   can   lead   to   a   vicious   cycle   where   it   induces   mitochondrial   dysfunction,   increasing   the   amount   of   𝑂!!  produced;   which   when   converted   to   hydrogen   peroxide   by   Manganese   Superoxide  Dismutates  (MnSOD)  can  form  highly  reactive  hydroxyl  radicals  by  the  Fenton  reaction  with   reduced   iron.   [1].   For   this   reason   mitochondria   is   one   of   the   most   important   sources   of   endogenous   Reactive   Oxygen   Species   (ROS)   and   has   an   important   role   in   the   oxidative   state   of   the   cell   [2].   Although   mitochondria  have  base  excision  repair  (BER)  mechanisms  that  removes  oxidative  DNA  lesions,  under   oxidative   stress   conditions   they   appear   to   be   inactivated   or   are   insufficient   to   repair   the   damage   cascade   [1,   10,   11].   mtDNA   lesions   block   the   RNA   polymerase   preventing   transcription   and   therefore   resulting   in   loss   of   the   proteins   of   the   electron   transport   chain   [12].   Different   studies   have   found   an   increase  in  mitochondrial  mass  and  mtDNA  content  as  a  compensation  mechanism  [13-­‐15],  but  recently   it   has   been   shown   that   defective   mitochondria   also   induce   a   process   of   mtDNA   depletion   and   mitophagy  that  appears  to  be  mediated  by  ROS  [16-­‐18].     The   long   amplicon   quantitative   PCR   (LA-­‐QPCR   or   QPCR)   technique   described   by   Santos   et.   al.   [19],   allows  the  evaluation  of  mtDNA  lesions  specifically  reducing  possible  sources  of  spurious  damage  to  the   DNA.    Briefly,  the  technique  is  based  on  the  decrease  of  the  amplification  of  specific  long  DNA  fragments   due   to   lesions   that   block   the   polymerase   progress.   This   technique   has   been   used   to   show   an   accumulation   of   DNA   damage   in   both   the   nucleus   and   mitochondria   of   patients   with   Friedreich’s   ataxia   [20]  and  an  increase  in  mtDNA  lesions  in  patients  with  macular  degeneration  [21],  but  it  has  not  been   used  for  biomonitoring  genotoxic  substances  in  human  populations.       Cigarette   smoke   contains   more   than   3,800   compounds   that   include   ROS   and   chemicals   that   can   form   other   reactive   substances   [22].   These   compounds   are   responsible   for   the   oxidative   stress   that   is   evidenced   as   an   increase   in   lipid   peroxidation   of   biological   membranes   and   DNA   damage   [23].   Moreover,   it   has   been   demonstrated   that   cigarette   smoke   compounds   affect   mitochondrial   function   leading  to  an  imbalance  in  the  production  of  endogenous  ROS,  thereby  increasing  the  oxidative  stress   [24].  Oxidative  stress  has  been  associated  to  most  of  the  pathologies  caused  by  cigarette  smoking  such   as  cardiovascular  dysfunction,  respiratory  pathologies,  immune  imbalance  and  cancer  [6,  25-­‐29].        .  . 6  .

(7) The   genotoxic   effect   of   cigarette   smoke   has   been   evidenced   with   techniques   like   sister   chromatid   exchanges  and  the  Comet  assay  that  evaluate  nuclear  DNA  (nDNA)  damage  [30];  although  nDNA  is  not   an  ideal  biomarker  to  evaluate  exposure  and  smoke  effects  in  DNA,  as  smokers  present  higher  rates  of   DNA   repair   [31].   For   these   reasons,   some   authors   have   hypothesized   that   mtDNA   damage   could   be   a   good   biomarker   of   tobacco   smoke   and   that   studies   with   mtDNA   damage   could   contribute   to   the   knowledge  of  molecular  epidemiology  of  cancer.  Most  of  the  studies  have  evaluated  mutations,  mtDNA   content   and   presence   of   oxidized   bases,   but   oxidative   damage   to   mtDNA   apparently   presents   more   single  and  double  strand  breaks.  Therefore,  the  aim  of  this  study  was  to  evaluate  the  effect  of  cigarette   smoking  in  mtDNA  content,  mtDNA  lesions  and  mitochondrial  superoxide  production.                .  . 7  .

(8) MATERIALS  AND  METHODS       Participants  and  sample  collection     49  male  volunteers,  between  the  age  range  of  18-­‐35,  were  recruited  via  advertisement  at  Universidad   de   los   Andes,   Bogotá,   Colombia,   for   a   study   of   smoking   behavior   and   effects   on   the   DNA.   They   were   divided   in   two   groups:   smokers   (n=   17),   were   daily   smokers   with   a   stable   smoking   pattern   of   at   least   1   year,   must   not   have   had   a   prior   history   of   cancer,   concurrent   infection,   do   intense   physical   activity   (more  than  12  hours  per  week)  nor  be  consuming  drugs  that  might  affect  the  immune  system  response.   On   the   other   hand,   the   group   of   non-­‐smokers   (n=   32),   defined   as   not   having   smoked   more   than   100   cigarettes   in   their   lifetime,   and   must   not   live   with   an   active   smoker.   All   the   volunteers   signed   an   informed   consent   previously   approved   by   the   University’s   ethics   committee   and   a   survey   about   their   smoking  status  and  lifestyle.  Blood  samples  were  collected  by  standard  phlebotomy  procedures.     Mitochondrial  DNA  quantitative  PCR  assay       Total   genomic   DNA   from   whole   blood   was   isolated   using   the   PAXgene   blood   DNA   isolation   kit   (PreAnalytiX/QIAGEN)   as   previously   described   [20].   Briefly   an   8.5mL   sample   of   whole   blood   was   collected   in   BD   collection   tubes   with   EDTA   (BD   Bioscience)   and   was   immediately   transferred   to   a   processing   tube   containing   a   lysing   solution.   Lysed   red   and   white   blood   cells   were   centrifuged,  and   the   resulting  pellet  of  nuclei  and  mitochondria  was  washed  and  resuspended.  After  digestion  with  protease,   DNA   was   precipitated   with   the   addition   of   isopropanol,   washed   with   ethanol   and   resuspended   in   the   elution  buffer.  DNA  was  diluted  to  a  final  concentration  of  3  ±  0.3  ng/μL.  Blood  DNA  was  successfully   extracted   and   its   purity   and   quality   was   verified   by   absorbance   at   260/280nm   in   nanodrop   spectrophotometer  and  agarose  gel  electrophoresis,  respectively.         DNA   lesion   frequencies   were   calculated   as   previously   described   [19,   20,   32].   An   8.9kb   fragment   of   mtDNA  was  amplified,  quantified  using  the  picogreen  reagent  (Invitrogen)  and  verified  by  agarose  gel   electrophoresis.  The  amplification  of  smokers  (As)  was  compared  to  the  amplification  of  non-­‐smokers   (Ans)  obtaining  a  relative  amplification  ratio.  Assuming  a  random  distribution  of  lesions  and  using  the   Poisson  equation  [where  λ  is  the  average  lesion  frequency  for  the  non  –  damaged  template  (i.e.,  the  zero   class;   x   =0)],   the   average   lesion   per   DNA   strand   was   determined   using   the   equation   λ   =   -­‐ln(As)/(Ans).   Amplification   of   mitochondrial   fragment   was   normalized   to   mitochondrial   copy   number   by   the   amplification  of  a  short  mitochondrial  fragment  (221bp),  which  due  to  its  small  size  is  probably  free  of   damage.   Each   PCR   run   included   a   positive   control   with   the   same   DNA   for   all   the   runs   of   the   study   in   order  to  guarantee  the  efficiency  of  the  PCR,  a  50%  control  with  half  of  the  DNA  concentration  of  the   positive  control  to  guarantee  that  the  PCR  is  in  the  quantitative  range  and  a  negative  control.  For  each   volunteer,   triplicate   amplifications   of   the   long   mitochondrial   fragment   were   conducted   in   each   PCR   run   and   two   independent   runs   were   conducted.   The   small   fragment   was   amplified   by   triplicate.   Only   one   person  conducted  the  DNA  extractions  and  PCRs.       Superoxide  quantification  using  MitoSOX     Mononuclear   cells   were   isolated   from   whole   blood   using   ficoll   gradient   to   10   smokers   and   23   non-­‐ smokers.   Briefly,   3mL   sample   of   whole   blood   was   collected   using   BD   collection   tubes   with   sodium   heparin,   diluted   in   5mL   of   Roswell   Park   Memorial   Institute   (RPMI,   Genaxxon   Bioscience)   cell   culture   media,  supplemented  with  2%  of  Fetal  Bovine  Serum  (FBS),  and  added  to  the  Histopaque  1077  (Sigma  .  . 8  .

(9) Aldrich)  solution.  After  centrifugation,  mononuclear  cells  were  isolated  and  washed  twice  with  RPMI  +   FBS   2%   followed   by   centrifugation   and   resuspended   in   1mL   of   RPMI   +   FBS   10%.   Cell   viability   was   evaluated  using  Trypan  Blue  dye  assay  and  cells  were  diluted  to  a  concentration  of  107  cells/mL.       Basal  𝑂!!   ,  reported  here  as  basal  MitoSOX  fluorescence,  was  evaluated  as  previously  described  [33,  34].   1.5mL  of  cells  were  washed  twice  with  Hanks  Balanced  Salt  Solution  (HBSS)  +  FBS  2%  and  resuspended   in  500μL  of  the  same  solution.  MitoSOX  (Molecular  Probes,  Invitrogen)  10μM  was  prepared  following   manufacturer’s   instructions   and   500μL   were   added   to   the   cells   and   incubated   during   30   minutes   at   37°C   and   5%   CO2.   After   MitoSOX   loading,   cells   were   washed   with   HBSS   +   FBS   2%,   resuspended   in   500μL   of   HBSS   +   FBS   2%   to   analyze   by   flow   cytometry.   To   induce   𝑂!!  production   as   positive   control,   1.5mL  of  cells  were  incubated  with  500μL  of  doxorubicin  (20μM  –  Ebewe  Pharma)  for  2  hours  at  37°C   and   5%   CO2   atmosphere.   Then   MitoSOX   was   loaded   as   previously   described.   All   the   procedures   were   conducted   in   the   dark   to   avoid   photobleaching.   The   change   in   MitoSOX   fluorescence   after   the   incubation   with   doxorubicin   was   used   as   a   measure   of   the   increase   in   𝑂!!   production   after   oxidative   stress  stimulation.       Samples   were   acquired   in   a   FACS   CANTO   II   flow   cytometer   (BD   Bioscience)   equipped   with   a   488nm   argon   laser.   Data   were   analyzed   with   FACSDiva   software   (BD   Bioscience).   At   least   5x104   cells   were   acquired  in  the  lymphocyte  population  gate  according  to  their  forward  scatter  (FSC)  versus  side  scatter   (SCC)  features.  Dead  cells  were  excluded  by  light  scatter  (FSC-­‐H  versus  FSH-­‐A).  MitoSOX  fluorescence   was  read  in  the  FL2  channel  and  mean  fluorescence  intensity  was  measured.       Statistical  Analysis     To   determine   the   homogeneity   of   the   study   populations,   a   randomized   t-­‐test   and   chi-­‐square   using   Monte   Carlo   simulation   was   done.   The   effect   of   the   different   variables   measured   in   the   survey   on   mt   DNA   content,   mtDNA   lesions,   basal   𝑂!!   and   the   response   to   oxidative   stress   was   evaluated   using   a   randomized   ANOVA   model.   Multiple   linear   regression   was   done   and   p-­‐values   for   each   variable   was   calculated  based  on  the  randomized  variables.  Correlations  were  done  using  the  spearman  correlation   test.   Most   of   the   statistical   analyses   were   based   in   randomization   to   reduce   the   effect   of   the   differences   between   sample   sizes   and   non   –   normal   distribution   of   the   variables   evaluated.   All   the   statistical   analyses  were  performed  using  the  R  2.12.2  statistical  software.          .  . 9  .

(10) RESULTS       Base   line   characteristics   of   the   smoker   and   non-­‐smoker   groups   are   shown   in   Table   I.     Groups   are   similar   regarding   age,   psychoactive   drug   consumption,   exercise   habits   and   fruit   and   vegetable   consumption.  The  only  difference  between  them  was  the  amount  of  alcohol  intake  during  the  weekend   (weekend  index)  where  smokers  tend  to  drink  more.       Relative   mitochondrial   DNA   lesions   were   calculated   using   the   QPCR   technique   [19,   20].   A   short   mitochondria  fragment  (221pb)  was  amplified  as  a  measure  of  mitochondrial  copy  number.  There  were   no   differences   between   relative   mtDNA   lesions   and   content   by   smoking   status,   exercise,   fruit   and   vegetable  consumption  (Table  II).  However,  there  were  differences  in  mtDNA  content  between  people   that   consume   psychoactive   substances   and   people   that   do   not   (Table   II).   Also,   there   was   a   small   positive  correlation  between  relative  mtDNA  lesions  and  age  (rho=0.305,  p  value=0.0393)  (Figure  1a)   and   an   interaction   effect   of   exercise   and   fruit   and   vegetable   consumption   in   mtDNA   lesions   (p-­‐ value=0.0453)  (Figure  1b),  although  time  of  exercise  had  no  effect.       Mitochondrial  𝑂!!  were  evaluated  staining  the  cells  with  MitoSOX  fluoroprobe,  which  is  directed  to  the   mitochondria   and   produces   red   fluorescence   when   oxidized   by   𝑂!!   and   excited   at   510nm.   To   induce   oxidative  stress  and  as  a  positive  control,  cells  were  incubated  for  2  hours  with  doxorubicin  (20μM),  a   chemotherapy  drug  that  induces  mitochondrial  𝑂!! production.  The  net  increase  in  𝑂!!  production  was   evaluated   subtracting   basal   MitoSOX   fluorescence   to   MitoSOX   fluorescence   after   incubation   with   doxorubicin.   This   was   used   as   a   measure   of   the   response   to   induced   oxidative   stress.   There   were   no   differences   between   smoking   status,   exercise,   and   alcohol   intake,   psychoactive   drugs   or   fruits   and   vegetables   (Table   II).   Nonetheless,   there   was   a   strong   effect   of   basal   MitoSOX   fluorescence   (p   value   <0.0001),  relative  mtDNA  content  (p  value=0.0042)  and  relative  mtDNA  lesions/10Kb  (p  value=0.0188)   in   the   increase   in   MitoSOX   fluorescence   (adjusted   R2  of   the   model=   0.8845)   (Figure   2),   where   the   basal   MitoSOX   fluorescence   and   relative   mtDNA   content   have   a   negative   slope   (Figure   2   a   and   c)   and   the   relative  mtDNA  lesions/10Kb  has  a  positive  slope  (Figure  2b).  There  was  no  correlation  between  the   predictor   variables.   In   addition,   when   discriminated   by   the   relative   mtDNA   lesions/10Kb   there   are   3   clusters   (Figure   2b)   where   people   with   less   relative   mtDNA   lesions,   more   mtDNA   content   and   basal   MitoSOX   fluorescence   presented   less   𝑂!!   production   when   incubated   with   doxorubicin;   people   with   more  relative  mtDNA  lesions  and  less  mtDNA  content  and  basal  MitoSOX  fluorescence  presented  more   𝑂!!   production   when   incubated   with   doxorubicin   and   there   is   a   group   in   the   middle   that   had   no   apparent  pattern.    We  found  no  correlation  between  the  lifestyle  characteristics  evaluated  in  the  survey   and  each  of  the  clusters  found.  .  . 10  .

(11) DISCUSSION     During  the  electron  transport  chain  some  electrons  leak  and  produce  𝑂!! ,  which  can  be  converted  into   more  reactive  species.  When  the  oxidative  balance  is  lost,  and  mitochondrial  detoxification  mechanisms   are   not   efficient,   ROS   can   oxidize   DNA   and   proteins.   This   leads   to   a   deficiency   in   transcription   and   ultimately   to   deregulations   of   the   ETC   that   causes   more   endogenous   ROS   production   [1,   2].   Oxidative   damage  induces  a  broad  spectrum  of  lesions  such  as  single  and  double  strand  breaks,  abasic  sites  and   base   oxidative   damage   (e.g.   thymine   glycol   or   8-­‐oxodG).   Non-­‐oxidative   lesions   such   as   bulky   adducts   can  also  induce  endogenous  ROS  production  as  they  can  induce  mutations  or  uncouple  transcription.       There  are  three  possible  responses  of  mtDNA  to  avoid  producing  an  excess  of  endogenous  ROS  under   stress  conditions.  First  it  tries  to  detoxify  𝑂!!  and  repair  the  oxidative  and  non-­‐oxidative  DNA  damage   [12,   35].   As   DNA   lesions   cause   transcription   to   arrest,   mtDNA   increases   its   DNA   content   to   compensate   the   transcription   deficiencies   and   keep   the   ETC   working   correctly   [12,   13,   36].   Finally,   mitochondria   that   cannot   compensate   the   damage   can   degrade   its   DNA,   cause   autophagy   (i.e.   mitophagy)   and   ultimately,  apoptosis  [37].       The   QPCR   technique   has   been   successfully   used   to   identify   nDNA   and   mtDNA   lesions   in   humans   [20,   21]  and  in  different  organisms  as  a  biomonitoring  assay  (reviewed  in  Meyer  et.  al  [38]  and  Hunter  et.  al.   [39]).  Nonetheless,  this  is  the  first  time  the  assay  has  been  used  for  biomonitoring  genotoxic  substances   in  human  populations.  This  technique  only  detects  lesions  that  can  stop  the  thermostable  polymerase   and   many   base   oxidative   damage   are   too   small   to   interrupt   replication;   nevertheless,   most   of   mtDNA   lesions  due  to  oxidative  damage  have  been  reported  to  be  strand  breaks  [37].       MitoSOX   is   the   mitochondrial   targeted   analog   of   hydroethidine   (HE),   which   is   specifically   oxidized   by   𝑂!!   in   the   mitochondria   and   forms   the   red   fluorescent   product   2-­‐hydroethidine   [40].   HE   has   been   proposed  as  the  gold  standard  to  evaluate  intracellular  𝑂!!  in  cardiovascular  studies  [41]  and  MitoSOX   has  been  used  to  monitor  their  production  in  different  cell  lines  and  tissues  [42,  43].  In  this  study  we   adapted   the   flow   cytometry   quantitation   of   MitoSOX   fluorescence   to   evaluate   mitochondrial   𝑂!!   production  in  peripheral  blood  lymphocytes.  To  ensure  the  assay  was  working  correctly  and  evaluate   mitochondrial  response  to  oxidative  stress  we  treated  lymphocytes  of  each  volunteer  with  doxorubicin,   which  induces  mitochondrial  dysfunction  and  𝑂!!  production.         As  cigarette  smoking  has  been  associated  with  an  increase  in  oxidative  stress,  and  it  appears  to  have  a   central  role  in  tobacco  pathogenesis,  different  authors  have  hypothesized  that  mtDNA  could  be  a  good   biomarker  of  tobacco’s  exposure  and  effect.  At  the  mitochondrial  level,  it  has  been  shown  that  specific   components   of   tobacco   smoke   such   as   N-­‐nitrosamines   and   acrolein   induce   mitochondrial   dysfunction   and   contribute   to   the   increase   of   oxidative   stress   through   endogenous   ROS   production   [44,   45].   Nonetheless,   non-­‐oxidative   lesions   can   also   be   induced   by   components   as   Polycyclic   Aromatic   Hydrocarbons  (PAHs)  that  bind  directly  to  DNA  and  forming  bulky  adducts  and  has  a  greater  affinity  for   mtDNA  than  nDNA.       Previous   studies   reported   an   increase   in   mtDNA   mutations,   content   and   lesions   lesions   in   bronchoalveolar  cells  of  smokers  compared  to  non  –  smokers  [14,  22,  46].  Since  cigarette  smoke  effects   are   systemic   (i.e.   not   just   in   respiratory   system)   we   hypothesized   that   its   components   must   travel   by   blood   flow   and   therefore   its   effects   could   be   evaluated   in   peripheral   blood   lymphocytes.   This   was   assessed   in   mouse   models   where   cell’s   𝑂!!   was   increased   in   lymphocytes   [47].   Our   results   show   no  .  . 11  .

(12) differences   between   smokers   and   non-­‐smokers   in   mtDNA   lesions,   mtDNA   content   or   the   amount   of   basal   𝑂!! ,   indicating   that   probably   the   effects   of   cigarette   smoking   are   not   increasing   the   endogenous   ROS  production  in  lymphocytes  and  correspondingly,  the  oxidative  lesions  and  mtDNA  content  are  not   increased.  The  fact  that  volunteers  were  young  people  with  a  mild  smoking  pattern  (mean  pack  years   were   3.97)   and   that   blood   is   not   a   tissue   directly   exposed   to   cigarette   smoke,   might   account   for   the   differences  found  in  our  study.  Probably,  due  to  continuous  exposure  to  cigarette  smoke  components  at   a   low   dose,   antioxidant   systems   and   DNA   repair   mechanisms   are   elevated,   as   it   has   been   observed   in   nDNA   [31].   Also,   lifespan   of   the   cells,   mtDNA   rechange   and   mitochondrial   biogenesis/degradation   equilibrium  might  be  different  in  bronchoalveolar  cells  and  peripheral  blood  lymphocytes.  This  results   indicate  that  mtDNA  from  peripheral  blood  lymphocytes  is  not  a  sensible  method  to  evaluate  the  early   effect  of  cigarette  smoking.       In  agreement  with  the  mitochondrial  and  free  radical  theory  of  ageing  we  found  an  increase  of  mtDNA   lesions  with  age  [48],  but  it  was  not  correlated  with  an  increase  in  the  amount  of  basal  𝑂!!  or  changes  in   mtDNA   content.   Studies   on   the   effect   of   exercise   on   mtDNA   content   show   mixed   results   [49,   50],   although   there   are   no   studies   on   the   effect   on   the   integrity   of   mtDNA.   On   the   other   hand,   fruits   and   vegetables   are   known   to   contain   antioxidants   and   induce   mitochondrial   biogenesis   but   how   they   might   interact  with  exercise  to  increase  or  reduce  mtDNA  lesions  needs  further  studies.       We  could  not  determine  which  lifestyle  habits  correlated  with  the  amount  basal  𝑂!!  production  in  the   mitochondria.  Nonetheless,  we  found  that  the  amount  of  basal  𝑂!! ,  mtDNA  content  and  mtDNA  lesions   had  a  strong  effect  in  the  increase  of  𝑂!!  production.  Our  results  show  that  people  with  high  basal  𝑂!! ,   produce   less   𝑂!!   when   stimulated   with   doxorubicin   (Figure   2a).   This   might   suggest   that   these   cells   are   adapted  to  high  oxidative  stress  conditions  and  therefore  respond  faster,  this  goes  in  agreement  with   Grishco  et.  al  [51]  that  found  that  cells  adapted  to  increased  ROS  levels,  had  higher  concentrations  of  AP   endonuclease,   one   of   the   enzymes   of   BER   mechanism.   Since   we   are   observing   less   𝑂!!   production   in   response  to  oxidative  stress  induction,  probably  the  activity  or  expression  of  detoxification  enzymes  are   increased.     We   also   found   that   induced   𝑂!!  production   increases   with   mtDNA   lesions,   which   supports   the  hypothesis  of  the  vicious  cycle,  where  damaged  mtDNA  induces  more  endogenous  ROS  production   (Figure   2b).   Finally,   higher   amounts   of   mtDNA   content   can   reduce   the   𝑂!!  production   cascade,   probably  by  avoiding  the  ETC  dysfunction  (Figure  2c).  In  Figure  2b  it  is  evident  the  interaction  of  the   three   variables.   On   the   lower   left   corner,   there   is   a   cluster   people   that   presented   higher   amounts   of  𝑂!!   and  mtDNA  content,  had  less  lesions  and  therefore  produced  less  ROS  in  response  to  doxorubicin.  On   the  higher  left  corner,  the  opposite  occurs.         As  far  as  we  know,  this  is  the  first  study  to  report  the  interaction  between  mtDNA  dynamics  and  basal   𝑂!!  production   in   the   response   to   oxidative   stress   in   human   cells.   Although   further   studies   should   be   conducted   to   determine   which   factors   could   affect   these   parameters,   this   may   predict   each   person’s   response  to  oxidative  stress,  which  is  frequent  in  different  pathologies  such  as  cancer  or  cardiovascular   disorders,   and   direct   a   more   accurate   therapy.   Further   studies   should   be   conducted   to   evaluate   the   change  in  mtDNA  dynamics  (i.e.  mtDNA  content  and  integrity)  after  the  treatment  with  doxorubicin  as   here   we   only   evaluated   the   baseline   conditions.   This   could   help   to   elucidate   how   the   three   possible   responses  of  mtDNA  to  oxidative  stress  are  acting.       In   summary,   our   results   show   that   cigarette   smoke   does   not   have   a   determinant   effect   in   the   endogenous   ROS   production   of   peripheral   blood   lymphocytes,   mtDNA   lesions   and   content;   therefore,   it   mtDNA   of   peripheral   blood   lymphocytes   is   not   a   sensible   biomarker   of   the   effect   of   cigarette   smoke.  .  . 12  .

(13) More  interestingly,  we  found  that  basal  endogenous  ROS  production,  mtDNA  content  and  integrity  are   determinant   in   the   response   to   induced   oxidative   stress.   Further   studies   with   a   bigger   sample   size   should   be   conducted   to   understand   which   lifestyle   or   genetic   factor   are   determinant   in   the   three   baseline  conditions.          .  . 13  .

(14) ACKNOWLEDGEMENTS         We  would  like  to  acknowledge  Dr.  John  Mario  Gonzalez  from  the  laboratory  of  basic  medical  science  of   Universidad  de  los  Andes  and  CorpoGen  for  facilitating  us  equipment  and  Martha  Vives  and  Joel  Meyer   for   their   valuable   comments   on   the   manuscript.   This   work   was   supported   by   the   Science   Faculty   of   Universidad  de  los  Andes.     REFERENCES     1.   Mandavilli,   B.S.,   J.H.   Santos,   and   B.   Van   Houten,   Mitochondrial   DNA   repair   and   aging.   Mutation   Research/Fundamental  and  Molecular  Mechanisms  of  Mutagenesis,  2002.  509(1-­‐2):  p.  127-­‐151.   2.   Andreyev,  A.Y.,  Y.E.  Kushnareva,  and  A.A.  Starkov,  Mitochondrial  Metabolism  of  Reactive  Oxygen   Species.  Biochemistry  (Moskow),  2005.  70(2).   3.   Boveris,   A.,   N.   Oshino,   and   B.   Chance,   The   Cellular   Production   of   Hydrogen   Peroxide.   Biochemistry  journal,  1972.  128(3):  p.  617  -­‐  630.   4.   de   Moura,   M.B.,   L.S.   dos   Santos,   and   B.   Van   Houten,   Mitochondrial   dysfunction   in   neurodegenerative  diseases  and  cancer.  Environmental  and  Molecular  Mutagenesis,  2010.  51(5):   p.  391-­‐405.   5.   Balaban,  R.S.,  S.  Nemoto,  and  T.  Finkel,  Mitochondria,  Oxidants,  and  Aging.  Cell,  2005.  120(4):  p.   483-­‐495.   6.   Carver,   A.V.,   et   al.,   Adverse   Effects   of   Cigarette   Smoke   and   Induction   of   Oxidative   Stress   in   Cardiomyocytes   and   Vascular   Endothelium.   Current   Pharmaceutical   Design,   2010.   16(23):   p.   2551-­‐2558.   7.   Csiszar,   A.,   et   al.,   Oxidative   stress   and   accelerated   vascular   aging:   implications   for   cigarette   smoking.  Frontiers  in  bioscience  :  a  journal  and  virtual  library,  2009.  14:  p.  3128-­‐44.   8.   Münzel,   T.,   F.   Post,   and   A.   Warnholtz,   Smoking   and   Oxidative   Stress:   Vascular   Damage,   in   Cigarette   Smoke   and   Oxidative   Stress,   B.B.   Halliwell   and   H.E.   Poulsen,   Editors.   2006,   Springer   Berlin  Heidelberg.  p.  339-­‐364.   9.   Burton,   G.J.   and   E.   Jauniaux,   Oxidative   stress.   Best   Practice   &amp;   Research   Clinical   Obstetrics   &amp;  Gynaecology,  2011.  25(3):  p.  287-­‐299.   10.   Yakes,  F.M.  and  B.  Van Houten,  Mitochondrial  DNA  damage  is  more  extensive  and  persists  longer   than  nuclear  DNA  damage  in  human  cells  following  oxidative stress.  Proceedings  of  the  National   Academy  of  Sciences  of  the  United  States  of  America,  1997.  94(2):  p.  514-­‐519.   11.   Santos,  J.H.,  et  al.,  Cell  Sorting  Experiments  Link  Persistent  Mitochondrial  DNA  Damage  with  Loss   of  Mitochondrial  Membrane  Potential  and  Apoptotic  Cell  Death.  Journal  of  Biological  Chemistry,   2003.  278(3):  p.  1728-­‐1734.   12.   Van   Houten,   B.,   V.   Woshner,   and   J.H.   Santos,   Role   of   mitochondrial   DNA   in   toxic   responses   to   oxidative  stress.  DNA  repair,  2006.  5(2):  p.  145-­‐52.   13.   Hsin-­‐Chen,   L.,   et   al.,   Increase   of   mitochondria   and   mitochondrial   DNA   in   response   to   oxidative   stress  in  human  cells.  Biochemistry  journal,  2000.  348:  p.  425  -­‐  432.   14.   Masayesva,   B.G.,   et   al.,   Mitochondrial   DNA   Content   Increase   in   Response   to   Cigarette   Smoking.   Cancer  Epidemiology  Biomarkers  &  Prevention,  2006.  15(1):  p.  19-­‐24.   15.   Chen,   R.-­‐J.,   et   al.,   Epigenetic   Effects   and   Molecular   Mechanisms   of   Tumorigenesis   Induced   by   Cigarette  Smoke:  An  Overview.  Journal  of  Oncology,  2011.  2011.   16.   Youle,  R.J.  and  D.P.  Narendra,  Mechanisms  of  mitophagy.  Nat  Rev  Mol  Cell  Biol,  2011.  12(1):  p.  9-­‐ 14.   17.   Tolkovsky,   A.M.,   Mitophagy.   Biochimica   et   Biophysica   Acta   (BBA)   -­‐   Molecular   Cell   Research,   2009.  1793(9):  p.  1508-­‐1515.   18.   Goldman,   S.J.,   et   al.,   Autophagy   and   the   degradation   of   mitochondria.   Mitochondrion,   2010.   10(4):  p.  309-­‐315.   19.   Santos,   J.H.,   et   al.,   Quantitative   PCR-­‐Based   Measurement   of   Nuclear   and   Mitochondrial   DNA   Damage  and  Repair  in  Mammalian  Cells,  in  Methods  in  Molecular  Biology:  DNA  Repair  Protocols:   Mammalian  Systems,  D.S.  Henderson,  Editor  2006,  Humana  Press  Inc:  Totowa,  NJ.  p.  183  -­‐  199.  .  . 14  .

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