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Genetic and biochemical intricacy shapes mitochondrial cytopathies

Lookup NU author(s): Emeritus Professor Doug Turnbull


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The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today up to 300 mutations were identified in the mitochondrial genome and about 200 nuclear genes are possibly mutated. In this review, we highlight a number of features specific to mitochondria which possibly participate in the complexity of these diseases. These features include both the complexity of mitochondrial genetics and the multiplicity of the roles ensured by the organelles in numerous aspects of cell life and death. This spectacular complexity presumably accounts for the present lack of an efficient therapy in the vast majority of cases. (C) 2015 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Turnbull DM, Rustin P

Publication type: Review

Publication status: Published

Journal: Neurobiology of Disease

Year: 2016

Volume: 92

Issue: Part A

Pages: 55-63

Print publication date: 01/08/2016

Online publication date: 12/02/2015

Acceptance date: 03/02/2015

ISSN (print): 0969-9961

ISSN (electronic): 1095-953X



DOI: 10.1016/j.nbd.2015.02.003