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3.13.2 miR-­‐30  targets  have  key  implications  in  cardiac  disease  

 

The   association   between   reduced   miR-­‐30   levels   and   cardiac   disease   has   been   recently   reported  in  relevant  animal  models  and  also  in  patient  samples  261,  266,  339.  Nevertheless,  the   description   of   miR-­‐30   target   genes   and   their   cellular   functions   has   remained   scarce.   The   target  subset  discovered  in  this  research  makes  up  core  components  of  cardiac  cell  signalling   and  function.  Therefore,  we  reasoned  that  the  central  downstream  effects  that  would  derive   from   manipulating   miR-­‐30   in   cardiac   cells   would   partly   reflect   the   mechanisms   being   unleashed  by  DOX  treatment  in  the  myocardium.  

 

3.13.2.1 Beta-­‐adrenergic  pathway  modulation  by  miR-­‐30  

 

Three  of  the  validated  miR-­‐30  targets  during  the  course  of  this  thesis  are  key  members  of   the   β-­‐adrenergic   pathway:   β1AR,   β2AR   and   Giα-­‐2.   β-­‐adrenoceptors   function   to   detect   catecholamine   stimulation   in   the   cell   surface   and   translate   it   into   cellular   activities.  

Subsequent   to   βAR   activation   is   the   synthesis   of   the   intracellular   mediator   (or   second   messenger)   cAMP   by   AC   19.   We   demonstrated   that   cAMP   accumulation   levels   vary   in   response   to   alterations   in   miR-­‐30   levels,   exhibiting   an   inverse   correlation   with   miR-­‐30   abundance  (Figure   39).  This  is  in  keeping  with  the  direct  post-­‐transcriptional  regulation  of   β1AR   and   β2AR   by   miR-­‐30   described   in   this   thesis.   DOX   treatment   triggered   greater   accumulation   of   cAMP   than   specific   miR-­‐30   inhibition,   which   suggests   that   DOX   may   act   through  additional  pathways  that  also  encourage  cAMP  build-­‐up.  

With  regard  to  cardiomyocyte  contractility,  the  βAR  positive  inotropic  effect  arises  following   a  rise  in  intracellular  Ca2+  mediated  by  AC-­‐cAMP-­‐PKA  signalling  19,  20.  Given  that  Giα-­‐2  inhibits   AC  activity  and  therefore  has  a  negative  inotropic  effect  (reduced  contractility)  376,  the  cAMP   accumulation  we  observed  suggests  miR-­‐30  to  be  inhibiting  βARs  more  deeply  compared  to   Giα-­‐2.  Our  suspicions  about  the  regulation  exerted  by  miR-­‐30  on  the  β-­‐adrenergic  pathway   were   reaffirmed   by   the   contractility   studies   performed   on   transfected   ARVCM.   Baseline   contraction  amplitude  of  ARVCM  with  exogenously  increased  miR-­‐30e  levels  did  not  differ   from   control   cardiomyocytes   (Figure   40B),   importantly   implying   that   higher   miR-­‐30   expression   is   not   detrimental   for   basal   contraction.   However,   ARVCM   showed   decreased   contractile   response   to   ISO   stimulation   upon   miR-­‐30e   overexpression   (Figure   40C),   which   might  appear  counterintuitive  in  relation  to  HF  since  it  tends  to  be  associated  with  reduced   CO.   Yet,   the   observed   reduction   in   contractile   responses   precisely   mirrors   the   effects   achieved  with  β-­‐blocker  agents,  widely  used  to  rescue  cardiac  function  86.  Moreover,  it  must   be  considered  that  miR-­‐30  expression  achieved  by  exogenous  overexpression  is  substantially   greater  than  physiological  levels.    

These  overexpression  experiments  served  to  illustrate  the  overall  impact  of  miR-­‐30  on  the  β-­‐

adrenergic  pathway,  which  results  from  the  net  effect  of  the  simultaneous  repression  of  βAR   and   Giα-­‐2.   ISO   is   a   βAR   agonist   and,   given   that   βARs   enhance   cardiomyocyte   contractility   while   Giα-­‐2   inhibits   it,   the   attenuated   contractile   response   to   ISO   stimulation   suggests   preferential  repression  of  βAR  by  miR-­‐30  alongside  a  compensatory  inhibition  of  Giα-­‐2.  In  any   case,  it  is  worth  noting  that  alternate  miR-­‐30  target  genes  to  the  ones  studied  here  could   also   be   modulating   contractile   responses   of   transfected   ARVCM.   The   observed   contractile   phenotype   was   copied   by   PTX-­‐mediated   ablation   of   Gi   combined   with   miR-­‐30   overexpression.   PTX   treatment   resulted   in   more   cell   death   and   higher   arrhythmia   in   the   studied   ARVCM,   which   agrees   with   the   described   anti-­‐apoptotic   and   anti-­‐arrhythmic   roles   for  Giα-­‐2  22,  24,  377.  Even  though  cells  survived  to  shorter  dose  response  curves  following  the   challenges   of   transfection   with   miR-­‐30e   mimics   over   48h   and   exposure   to   PTX,   pre-­‐NC   transfected   ARVCM   treated   with   PTX   showed   significantly   enhanced   contractile   amplitude   upon   stimulation   with   ISO.   Conversely,   PTX-­‐treated   miR-­‐30e   overexpressing   ARVCM   presented  no  significant  alteration  of  their  contractile  response  to  ISO  in  relation  to  miR-­‐30   transfected   ARVCM   not   unexposed   to   PTX   (Figure   41).   These   results   indicate   that,   even  

when   incorporating   extra   Giα-­‐2   inhibition   by   PTX,   miR-­‐30   still   has   predominantly   inhibitory   effects  on  βARs  (β1AR,  β2AR).    

In  summary,  high  miR-­‐30  expression  correlates  with  lower  intracellular  cAMP  accumulation,   reduced  contractile  response  to  ISO  stimulation  but  normal  baseline  contractility,  and  with   unaffected  contraction  amplitude  upon  PTX  treatment.  These  data  support  a  β-­‐blocker  like   activity  for  miR-­‐30.  Since  we  have  shown  here  that  miR-­‐30  targets  both  β1AR  and  β2AR,  it   would  function  as  a  non-­‐selective  β-­‐blocker.  Recent  publications  propose  a  preferred  use  of   β1-­‐selective   blockers   that   are   able   to   concomitantly   maintain/stimulate   β2AR   signalling.  

Certainly,  β2AR-­‐specific  agonists  are  thought  to  provide  an  attractive  therapeutic  target  to   minimize  myocyte  apoptosis  and  arrhythmogenesis  378.  Nevertheless,  it  is  important  to  note   that   miRNAs   are   moderate   regulators   and   miR-­‐30   administration   would   therefore   cause   modest  changes  in  βAR  expression.  In  addition,  miR-­‐30  repression  of  the  β2AR-­‐Gi  signalling   pathway,  which  is  considered  to  be  anti-­‐apoptotic  in  cardiomyocytes,  would  expectedly  be   compensated  by  the  simultaneous  inhibition  of  the  key  pro-­‐apoptotic  gene  BNIP3L.  In  the   particular   case   of   DOX-­‐induced   cardiotoxicity,   it   should   be   noted   that   given   the   reported   increase  in  β2AR  expression  in  injured  hearts  –in  agreement  with  our  data-­‐  375,  it  is  debatable   whether  β2AR  stimulation  would  be  beneficial  in  this  model.  Besides,  some  degree  of  Giα-­‐2   inhibition   by   miR-­‐30   is   not   predicted   to   be   damaging,   as   Giα-­‐2   expression   is   found   up-­‐

regulated  in  end  stage  HF  56.  

Remarkably,  the  implications  of  the  subset  of  miR-­‐30  targets  described  here  extend  beyond   the   DOX   cardiotoxicity   model   on   which   this   research   has   focused.   A   number   of   cardiac   conditions  leading  to  failure  have  been  attributed  to  an  intense  stimulation  of  βARs  -­‐  from   hypertrophy  leading  to  failure  52,  to  stress  (Takotsubo)  cardiomyopathy  deriving  from  high   circulating   adrenaline   379.   Chronic   catecholamine   stimulation   causes   negative   inotropic   effects  on  myocytes,  leading  to  global  ventricular  dysfunction  18.  Catecholamines  have  been   shown  to  induce  dose-­‐dependent  apoptosis  in  cardiomyocytes,  which  can  be  blunted  by  the   use  of  β-­‐blockers.  This  toxicity  appears  to  be  mediated  by  increased  cAMP  leading  to  Ca2+  

overload   380.   In   addition,   metabolic   products   of   catecholamines   have   been   shown   to   generate  ROS  381.  Oxidative  stress  has  been  linked  to  the  pathophysiology  of  HF  in  general  382   and,  more  specifically,  to  anthracycline  cardiomyopathy  114,  156.  Therefore,  the  restoration  of  

miR-­‐30   expression   in   DOX-­‐treated   hearts   could   also   contribute   to   reduced   ROS   levels   by   repressing  β-­‐adrenergic  expression.    

To   recapitulate,   the   down-­‐regulation   of   miR-­‐30   caused   by   DOX   could   be   enhancing   β-­‐

adrenergic  signalling  (Figure  38,  Figure  39,  Figure  41).  This,  in  turn,  would  lead  to  increased   responsiveness  to  catecholamines  and  the  associated  risks  of  overstimulation.  Importantly,  a   potential   link   between   DOX   cardiotoxicity   and   the   detrimental   effects   of   the   catecholamine/βAR  cascade  can  be  drawn  from  a  study  where  the  administration  of  clinical   doses   of   DOX   in   dogs   induced   an   increase   in   circulating   catecholamines  60.   The   potential   contribution   of   catecholamine-­‐mediated   βAR   stimulation   to   the   mechanisms   involved   in   DOX  cardiomyopathy  would  precisely  support  the  discussed  therapeutic  use  of  miR-­‐30  as  a   β-­‐blocker  agent.    

 

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