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Mitochondrial dysfunction in a novel form of autosomal recessive ataxia


Murad, NAA and Cullen, JK and McKenzie, M and Ryan, MT and Thorburn, D and Gueven, N and Kobayashi, J and Birrell, G and Yang, J and Dork, T and Becherel, O and Grattan-Smith, P and Lavin, MF, Mitochondrial dysfunction in a novel form of autosomal recessive ataxia, Mitochondrion, 13, (3) pp. 235-245. ISSN 1872-8278 (2012) [Refereed Article]

Copyright Statement

Copyright 2012 Elsevier B.V. and Mitochondria Research Society

DOI: doi:10.1016/j.mito.2012.11.006


Defects in the recognition and/or repair of damage to DNA are responsible for a sub-group of autosomal recessive ataxias. Included in this group is a novel form of ataxia with oculomotor apraxia characterised by sensitivity to DNA damaging agents, a defect in p53 stabilisation, oxidative stress and resistance to apoptosis. We provide evidence here that the defect in this patient's cells is at the level of the mitochondrion. Mitochondrial membrane potential was markedly reduced in cells from the patient and ROS levels were elevated. This was accompanied by lipid peroxidation of mitochondrial proteins involved in electron transport and RNA synthesis. However, no gross changes or alteration in composition or activity of mitochondrial electron transport complexes was evident. Sequencing of mitochondrial DNA revealed a mutation, I349T, in the mitochondrial cytochrome b gene. These results describe a patient with an apparently novel form of AOA characterised by a defect at the level of the mitochondrion.

Item Details

Item Type:Refereed Article
Keywords:ataxia, oculomotor apraxia, mitochondria, p53, apoptosis
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the health sciences
UTAS Author:Gueven, N (Dr Nuri Guven)
ID Code:81790
Year Published:2012
Web of Science® Times Cited:5
Deposited By:Pharmacy
Deposited On:2013-01-08
Last Modified:2017-09-05

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