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Mitochondrion. 2007 May;7(3):230-3. Epub 2007 Jan 8.

Population prevalence of the MELAS A3243G mutation.

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Kolling Institute, Department of Neurogenetics, University of Sydney, Clinic 4, Royal North Shore Hospital, Reserve Road, St. Leonards, NSW 2065, Australia.


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 236/100000 (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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