Mitochondrial DNA depletion syndrome and its cardiac complication
Mitochondrial depletion syndrome (MTDPS) is a heterogeneous group of genetic disorders characterized by a significant reduction in mitochondrial DNA (mtDNA) copy number, leading to the impaired mitochondrial function. The pathogenesis of MTDPS includes impaired mtDNA replication, damaged nucleotide...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1582219/full |
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| author | Shengfang Bao Shengfang Bao Jiajun Ye Jiaqi Zhou Chen Zheng Yuejuan Xu Sun Chen |
| author_facet | Shengfang Bao Shengfang Bao Jiajun Ye Jiaqi Zhou Chen Zheng Yuejuan Xu Sun Chen |
| author_sort | Shengfang Bao |
| collection | DOAJ |
| description | Mitochondrial depletion syndrome (MTDPS) is a heterogeneous group of genetic disorders characterized by a significant reduction in mitochondrial DNA (mtDNA) copy number, leading to the 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 the MTDPS contributes to the development of the mitochondrial cardiomyopathy. In this review, we summarize the cardiac phenotypes in the MTDPS, and the role of the 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 the MTDPS and its cardiac phenotypes in order to provide insights for the further research and the clinic management. |
| format | Article |
| id | doaj-art-928c734265c34db18437d565016eeb4f |
| institution | DOAJ |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-928c734265c34db18437d565016eeb4f2025-08-20T03:10:20ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-06-011210.3389/fcvm.2025.15822191582219Mitochondrial DNA depletion syndrome and its cardiac complicationShengfang Bao0Shengfang Bao1Jiajun Ye2Jiaqi Zhou3Chen Zheng4Yuejuan Xu5Sun Chen6Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Rheumatology and Immunology, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaMitochondrial depletion syndrome (MTDPS) is a heterogeneous group of genetic disorders characterized by a significant reduction in mitochondrial DNA (mtDNA) copy number, leading to the 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 the MTDPS contributes to the development of the mitochondrial cardiomyopathy. In this review, we summarize the cardiac phenotypes in the MTDPS, and the role of the 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 the MTDPS and its cardiac phenotypes in order to provide insights for the further research and the clinic management.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1582219/fullmitochondrial DNA depletion syndromecardiomyopathymtDNA replicationnucleotide metabolismmitochondrial dynamicsmitochondrial damage |
| spellingShingle | Shengfang Bao Shengfang Bao Jiajun Ye Jiaqi Zhou Chen Zheng Yuejuan Xu Sun Chen Mitochondrial DNA depletion syndrome and its cardiac complication Frontiers in Cardiovascular Medicine mitochondrial DNA depletion syndrome cardiomyopathy mtDNA replication nucleotide metabolism mitochondrial dynamics mitochondrial damage |
| title | Mitochondrial DNA depletion syndrome and its cardiac complication |
| title_full | Mitochondrial DNA depletion syndrome and its cardiac complication |
| title_fullStr | Mitochondrial DNA depletion syndrome and its cardiac complication |
| title_full_unstemmed | Mitochondrial DNA depletion syndrome and its cardiac complication |
| title_short | Mitochondrial DNA depletion syndrome and its cardiac complication |
| title_sort | mitochondrial dna depletion syndrome and its cardiac complication |
| topic | mitochondrial DNA depletion syndrome cardiomyopathy mtDNA replication nucleotide metabolism mitochondrial dynamics mitochondrial damage |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1582219/full |
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