title: Population prevalence of the MELAS A3243G mutation.
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 236/100000 (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.
authors.affiliation: Kolling Institute, Department of Neurogenetics, University of Sydney, Clinic 4, Royal North Shore Hospital, Reserve Road, St. Leonards, NSW 2065, Australia.
authors.forename: Neil
authors.initials: N
authors.lastname: Manwaring
authors.forename: Michael M
authors.initials: MM
authors.lastname: Jones
authors.forename: Jie Jin
authors.initials: JJ
authors.lastname: Wang
authors.forename: Elena
authors.initials: E
authors.lastname: Rochtchina
authors.forename: Chris
authors.initials: C
authors.lastname: Howard
authors.forename: Paul
authors.initials: P
authors.lastname: Mitchell
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Sue
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
chemical_list: D004272:DNA, Mitochondrial