Lookup NU author(s): 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.
Author(s): Turnbull DM, Rustin P
Publication type: Review
Publication status: Published
Journal: Neurobiology of Disease
Issue: Part A
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
Publisher: ACADEMIC PRESS INC ELSEVIER SCIENCE