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

被引：0
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作者：
Ritoprova Sen
Cuckoo Teresa Jetto
Ravi Manjithaya
机构：
[1] Jawaharlal Nehru Centre for Advanced Scientific Research,Autophagy Laboratory, Molecular Biology and Genetics Unit
[2] Jawaharlal Nehru Centre for Advanced Scientific Research,Neuroscience Unit
来源：
Journal of Biosciences | / 49卷
关键词：
Dynamics; mitochondrial DNA copy number; mitochondrial DNA depletion syndrome; therapeutic strategies;
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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.
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