期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1802, 期 1, 页码 111-121出版社
ELSEVIER
DOI: 10.1016/j.bbadis.2009.07.010
关键词
Mitochondrial DNA
资金
- Muscular Dystrophy Campaign
- Wellcome Trust
- Marriott Research Fund
- Newcastle Biomedical Research Centre
- Newcastle University Centre for Brain Ageing
- BBSRC
- EPSRC
- ESRC
- MRC
- UK NIHR Biomedical Research Centre for Ageing and Age-related disease
- MRC [G0502157, G0400074, G0700718, G0900652] Funding Source: UKRI
- Medical Research Council [G0400074, G0502157, G0900652, G0700718, G0601943B] Funding Source: researchfish
Mitochondrial DNA mutations are an important cause of neurological disease. The clinical presentation is very varied in terms of age of onset and different neurological signs and symptoms. The clinical course varies considerably but in many patients there is a progressive decline, and in some evidence of marked neurodegeneration. Our understanding of the mechanisms involved is limited due in part to limited availability of animal models of disease. However, studies on human post-mortem brains, combined with clinical and radiological studies, are giving important insights into specific neuronal involvement. (C) 2009 Elsevier B.V. All rights reserved.
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