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Journal of Inherited Metabolic Disease

, Volume 40, Issue 4, pp 587–599

First Online: 21 March 2017Received: 24 January 2017Revised: 10 February 2017Accepted: 13 February 2017


A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia CPEOs, are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA mtDNA maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control. In most cases, allelic mutations in these genes may lead to profoundly different phenotypes associated with either mtDNA depletion or multiple deletions.

Communicated by: Shamima Rahman

Presented at the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, September 6–9, 2016

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Autor: Carlo Viscomi - Massimo Zeviani


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