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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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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. |
format | Online Article Text |
id | pubmed-8882844 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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