AUTHOR=Wang Haiying , Han Yijun , Li Shenwei , Chen Yunan , Chen Yafen , Wang Jing , Zhang Yuqing , Zhang Yawen , Wang Jingsuo , Xia Yong , Yuan Jinxiang 

TITLE=Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 8 - 2021

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2021.808115

DOI=10.3389/fcvm.2021.808115

ISSN=2297-055X

ABSTRACT=Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It functions as a "power plant" by producing ATP through oxidativephosphorylation, providing energy for the cell. The bioenergetic function of mitochondria is regulated by nuclear genes (nDNA).Mitochondrial DNA (mtDNA) and respiratory enzymes lose normal structure and function when nuclear genes encoding the relatedmitochondrial factors are impaired, resulting in deficiency in energy production. Excessive production of reactive oxygen species (ROS) and the calcium overload are common causes of mitochondrial diseases. Mitochondrial DNA depletion syndrome (MDS) is a disease caused by mutations of mitochondrial genes in the nucleus. It is a heterogeneous mitochondrial disease characterized by reduction of the copy number of mtDNA. TK2, FBXL4, TYPM and AGK are genes known to be related to MDS. More recent studies identified new mutation loci associated with the disease. This review first summarizes the structure and function of mitochondria, and then discusses the characteristics of various types of MDS and associated cardiac diseases.