Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes

被引：4

作者：

Sen, Ritoprova ^{[1
]}

Jetto, Cuckoo Teresa ^{[1
]}

Manjithaya, Ravi ^{[1
,2
]}

机构：

[1] Jawaharlal Nehru Ctr Adv Sci Res, Mol Biol & Genet Unit, Autophagy Lab, Bengaluru, India

[2] Jawaharlal Nehru Ctr Adv Sci Res, Neurosci Unit, Bengaluru, India

来源：

JOURNAL OF BIOSCIENCES | 2024年 / 49卷 / 01期

关键词：

Dynamics; mitochondrial DNA copy number; mitochondrial DNA depletion syndrome; therapeutic strategies; MTDNA COPY NUMBER; NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY; POLYMERASE-GAMMA; THYMIDINE PHOSPHORYLASE; GENOME MAINTENANCE; QUALITY-CONTROL; REPLICATION; MUTATIONS; FUSION; TRANSCRIPTION;

D O I：

10.1007/s12038-024-00428-9

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Mitochondrial DNA depletion syndromes (MDS) encompass a wide spectrum of rare genetic disorders caused by severe reduction in mitochondrial DNA (mtDNA), and exhibit heterogenous phenotypes classified as myopathic, encephalomyopathic, hepatocerebral, and neurogastrointestinal. Prognosis for such a spectrum of diseases is poor and is majorly dependent on symptomatic treatment and nutritional supplementation. Understanding the mechanistic aspect of mtDNA depletion can help bring forth a new era of medicine, moving beyond symptomatic treatment and focusing more on organelle-targeted therapies. In this review, we highlight some of the proposed mechanistic bases of mtDNA depletion and the latest therapeutic measures used to treat MDS.

引用

页数：15

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