Mitochondrial DNA disease-molecular insights and potential routes to a cure.

Oliver Russell, Doug Turnbull

Journal: Experimental cell research 2014;325(1):38-43

PMID: 24675282

Free Full Text on Elsevier Science View on PubMed

Abstract

Mitochondrial DNA diseases are common neurological conditions caused by mutations in the mitochondrial genome or nuclear genes responsible for its maintenance. Current treatments for these disorders are focussed on the management of the symptoms, rather than the correction of biochemical defects caused by the mutation. This review focuses on the molecular effects of mutations, the symptoms they cause and current work focusing on the development of targeted treatments for mitochondrial DNA disease.

Address: Newcastle University Centre for Brain Ageing and Vitality and Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.; Newcastle University Centre for Brain Ageing and Vitality and Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Electronic address: [email protected].

DOI: 10.1016/j.yexcr.2014.03.012

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MeSH Terms: DNA, Mitochondrial, Humans, Mitochondria, Mitochondrial Diseases, Mitochondrial Proton-Translocating ATPases, Point Mutation, RNA, Transfer, Leu, Sequence Deletion