Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2068981 | Mitochondrion | 2007 | 4 Pages |
Abstract
We aimed to establish the population prevalence of the MELAS 3243A>G mtDNA mutation in a large Caucasian-based population (n = 2954; 99% Caucasian, 57% women and mean age of 66.4 years). All participants underwent comprehensive clinical evaluation including audiologic testing. We detected the 3243A>G mutation in seven subjects using standard polymerase chain reaction/restriction fragment length polymorphism methods, establishing a population prevalence of 236/100 000 (0.24%; 95% CI 0.10–0.49%); much higher than previously reported. All had mild to moderate hearing loss. Our findings indicate that subjects with the 3243A>G mtDNA mutation could be markedly under-recognised in the community.
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Authors
Neil Manwaring, Michael M. Jones, Jie Jin Wang, Elena Rochtchina, Chris Howard, Paul Mitchell, Carolyn M. Sue,