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Mitochondrial DNA mutations in Alzheimer's disease
T P Hutchin1, P R Heath, R C Pearson
1Academic Department of Geriatric Medicine, University of Birmingham, Selly Oak Hospital, United Kingdom. t.p.hutchin@bham.ac.uk
Biochemical and Biophysical Research Communications
|January 13, 1998
Summary
Mitochondrial DNA (mtDNA) mutations are investigated for Alzheimer's disease (AD) links. While previously reported mutations were not found, a novel mtDNA mutation in one patient suggests a possible role in early-onset AD.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Biology
Background:
- Mitochondrial DNA (mtDNA) point mutations are implicated in Alzheimer's disease (AD) pathogenesis.
- Conflicting reports exist regarding the association between mtDNA mutations and AD.
- A recent study suggested specific cytochrome oxidase gene mutations may explain up to 20% of AD cases.
Purpose of the Study:
- To investigate the incidence of previously reported mtDNA mutations in Alzheimer's disease (AD) brain tissue.
- To identify novel mtDNA mutations potentially associated with AD, particularly early-onset forms.
Main Methods:
- Screening of brain tissue from 65 AD patients for specific, previously reported mtDNA mutations.
- Analysis for novel mtDNA mutations, including in patients with APP gene mutations and early-onset dementia.
Main Results:
- No increased incidence of previously reported mtDNA mutations was found in the AD patient cohort.
- A novel G to C mutation at position 5705 in the tRNAAsn gene was identified in one AD patient with early-onset dementia and an APP gene mutation.
- This novel mutation may contribute to the early onset of dementia in the affected individual.
Conclusions:
- The role of mtDNA mutations in Alzheimer's disease (AD) pathogenesis remains uncertain.
- mtDNA mutations may not be primary causes of AD but could contribute to disease onset.
- Further research is needed to elucidate the specific contribution of mtDNA mutations to AD development.