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Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease

Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It acts as a “power plant” by producing ATP through oxidative phosphorylation, providing energy for the cell. The bioenergetic functions of mitochondria are regulated by nuclear genes (nDNA). Mitocho...

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Autores principales: Wang, Haiying, Han, Yijun, Li, Shenwei, Chen, Yunan, Chen, Yafen, Wang, Jing, Zhang, Yuqing, Zhang, Yawen, Wang, Jingsuo, Xia, Yong, Yuan, Jinxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882844/
https://www.ncbi.nlm.nih.gov/pubmed/35237671
http://dx.doi.org/10.3389/fcvm.2021.808115
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author Wang, Haiying
Han, Yijun
Li, Shenwei
Chen, Yunan
Chen, Yafen
Wang, Jing
Zhang, Yuqing
Zhang, Yawen
Wang, Jingsuo
Xia, Yong
Yuan, Jinxiang
author_facet Wang, Haiying
Han, Yijun
Li, Shenwei
Chen, Yunan
Chen, Yafen
Wang, Jing
Zhang, Yuqing
Zhang, Yawen
Wang, Jingsuo
Xia, Yong
Yuan, Jinxiang
author_sort Wang, Haiying
collection PubMed
description Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It acts as a “power plant” by producing ATP through oxidative phosphorylation, providing energy for the cell. The bioenergetic functions of mitochondria are regulated by nuclear genes (nDNA). Mitochondrial DNA (mtDNA) and respiratory enzymes lose normal structure and function when nuclear genes encoding the related mitochondrial factors are impaired, resulting in deficiency in energy production. Massive generation of reactive oxygen species and calcium overload are common causes of mitochondrial diseases. The mitochondrial depletion syndrome (MDS) is associated with the mutations of mitochondrial genes in the nucleus. It is a heterogeneous group of progressive disorders characterized by the low mtDNA copy number. TK2, FBXL4, TYPM, and AGK are genes known to be related to MDS. More recent studies identified new mutation loci associated with this disease. Herein, we first summarize the structure and function of mitochondria, and then discuss the characteristics of various types of MDS and its association with cardiac diseases.
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spelling pubmed-88828442022-03-01 Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease Wang, Haiying Han, Yijun Li, Shenwei Chen, Yunan Chen, Yafen Wang, Jing Zhang, Yuqing Zhang, Yawen Wang, Jingsuo Xia, Yong Yuan, Jinxiang Front Cardiovasc Med Cardiovascular Medicine Mitochondria is a ubiquitous, energy-supplying (ATP-based) organelle found in nearly all eukaryotes. It acts as a “power plant” by producing ATP through oxidative phosphorylation, providing energy for the cell. The bioenergetic functions of mitochondria are regulated by nuclear genes (nDNA). Mitochondrial DNA (mtDNA) and respiratory enzymes lose normal structure and function when nuclear genes encoding the related mitochondrial factors are impaired, resulting in deficiency in energy production. Massive generation of reactive oxygen species and calcium overload are common causes of mitochondrial diseases. The mitochondrial depletion syndrome (MDS) is associated with the mutations of mitochondrial genes in the nucleus. It is a heterogeneous group of progressive disorders characterized by the low mtDNA copy number. TK2, FBXL4, TYPM, and AGK are genes known to be related to MDS. More recent studies identified new mutation loci associated with this disease. Herein, we first summarize the structure and function of mitochondria, and then discuss the characteristics of various types of MDS and its association with cardiac diseases. Frontiers Media S.A. 2022-02-14 /pmc/articles/PMC8882844/ /pubmed/35237671 http://dx.doi.org/10.3389/fcvm.2021.808115 Text en Copyright © 2022 Wang, Han, Li, Chen, Chen, Wang, Zhang, Zhang, Wang, Xia and Yuan. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Wang, Haiying
Han, Yijun
Li, Shenwei
Chen, Yunan
Chen, Yafen
Wang, Jing
Zhang, Yuqing
Zhang, Yawen
Wang, Jingsuo
Xia, Yong
Yuan, Jinxiang
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title_full Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title_fullStr Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title_full_unstemmed Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title_short Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease
title_sort mitochondrial dna depletion syndrome and its associated cardiac disease
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882844/
https://www.ncbi.nlm.nih.gov/pubmed/35237671
http://dx.doi.org/10.3389/fcvm.2021.808115
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