Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica ›› 2017, Vol. 39 ›› Issue (3): 438-444.doi: 10.3881/j.issn.1000-503X.2017.03.024

• Orginal Article • Previous Articles     Next Articles

Progress in Molecular Genetic Study of Mitochondrial Cardiomyopathy

Ruiqi ZHUGE, Rong ZHOU, Xinhai NI()   

  1. National Center for Cardiovascular Disease,Department of Cardiology,Fuwai Hospital,CAMS and PUMC,Beijing 100037,China
  • Received:2016-01-04 Online:2017-06-30 Published:2017-06-20


Mitochondria plays a key role in providing ATP for the energy-consuming cardiac tissues. Mitochondrial cardiomyopathy is a myocardial condition characterized by abnormal heart structure and/or function secondary to genetic defects involving the mitochondrial respiratory chain. The typical cardiac manifestations of mitochondrial cardiomyopathy include hypertrophic and dilated cardiomyopathy,while left ventricular myocardial noncompaction is less common. Recent research has suggested that most mitochondrial diseases result from mitochondrial DNA mutation,which can be found in genes that encode ancillary proteins needed for genetic transcription (tRNA),in genes that encode subunits of the electron transport chain complexes,or in genes that control the activities of the mitochondria called D-loop zone. However,the exact physiological mechanisms remain unclear. This review summarizes the recent advances in the molecular mechanism of mitochondrial cardiomyopathy.

Key words: mitochondrial cardiomyopathy, mitochondrial DNA, mutation, pathogenesis

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