Genetic and biochemical intricacy shapes mitochondrial cytopathies

作者: Douglass M. Turnbull , Pierre Rustin

DOI: 10.1016/J.NBD.2015.02.003

关键词:

摘要: The major progress made in the identification of molecular bases mitochondrial disease has revealed huge diversity their origin. Today up to 300 mutations were identified genome and about 200 nuclear genes are possibly mutated. In this review, we highlight a number features specific mitochondria which participate complexity these diseases. These include both genetics multiplicity roles ensured by organelles numerous aspects cell life death. This spectacular presumably accounts for present lack an efficient therapy vast majority cases.

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