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Open Access 01-07-2017 | SSIEM 2016

MtDNA-maintenance defects: syndromes and genes

Authors: Carlo Viscomi, Massimo Zeviani

Published in: Journal of Inherited Metabolic Disease | Issue 4/2017

Abstract

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.

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Title: MtDNA-maintenance defects: syndromes and genes
Authors: Carlo Viscomi
Massimo Zeviani
Publication date: 01-07-2017
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2017
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0027-5

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