Mitochondrial functions and rare diseases.
作者： L. Dard , W. Blanchard , C. Hubert , D. Lacombe , R. Rossignol
DOI: 10.1016/J.MAM.2019.100842
关键词:
摘要: Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical processes as energy transduction, REDOX signaling, the biosynthesis hormones and vitamins, inflammation or cell death execution. Cell biology studies established that 1158 human genes encode proteins localized to mitochondria, registered in MITOCARTA. Clinical showed number these mitochondrial can be altered expression function through genetic, epigenetic mechanisms including interaction with environmental toxics iatrogenic medicine. As result, pathogenic genetic functional defects participate onset progression growing rare diseases. In this review we provide an exhaustive survey biochemical, clinical demonstrated implication dysfunction We discuss striking diversity symptoms caused by strategies proposed therapy, ongoing trials.
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