REVIEW article
Front. Cardiovasc. Med.
Sec. Cardiovascular Metabolism
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1582219
This article is part of the Research TopicMitochondrial Pathophysiology in Cardiomyopathy and Cardiac SenescenceView all articles
Mitochondrial DNA depletion syndrome and its cardiac complication
Provisionally accepted
- 1Shanghai Children's Medical Center, Shanghai, China
- 2Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, Shanghai Municipality, China
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Mitochondrial depletion syndrome (MTDPS) is a heterogeneous group of genetic disorders characterized by a significant reduction in mitochondrial DNA (mtDNA) copy number, leading to impaired mitochondrial function. The pathogenesis of MTDPS includes impaired mtDNA replication, damaged nucleotide metabolism and dysregulated mitochondrial dynamics. Due to its high energy demands, the heart is sensitive to the mitochondrial dysfunction. And the energy deficiency caused by MTDPS contributes to the development of mitochondrial cardiomyopathy.In this review, we summarize the cardiac phenotypes in MTDPS, and the role of mitochondrial injury in the myocardial damage. In specific, the association of the MTDPS-causing genes and their cardiac phenotypes are detailed. Moreover, the current treatment strategies for MTDPS are summarized. This review aims to integrate the current knowledge on MTDPS and its cardiac phenotypes in order to provide insights for the further research and the clinic management.
Keywords: Mitochondrial DNA depletion syndrome, cardiomyopathy, mtDNA replication, Nucleotide metabolism, Mitochondrial dyanmics, Mitochodrial damage, mitochondrial dysfunction
Received: 07 Mar 2025; Accepted: 21 May 2025.
Copyright: © 2025 Bao, Ye, Zhou, Zheng, Xu and Chen. 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) or licensor 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.
* Correspondence:
Yuejuan Xu, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200092, Shanghai Municipality, China
Sun Chen, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200092, Shanghai Municipality, China
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