title: Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.
abstract: Mitochondrial diabetes and deafness (MIDD) is a subtype of diabetes mellitus (DM) that most commonly results from the m.3243A > G mutation in mitochondrial DNA (mtDNA). Sensorineural hearing loss is a typical accompanying feature. Previous studies have suggested a prevalence of ~1-1.5 % for MIDD. We studied the molecular epidemiology of MIDD among young (aged 18-45 years) adults in a defined population in southwestern Finland. Of the identified cohort of 1,532 patients with DM, we received blood samples of 299 patients and analyzed them for the m.3243A > G mutation and for mtDNA haplogroups. We found three DM patients (1.0 %) with the m.3243A > G mutation. All the three patients with DM and m.3243A > G also had severe hearing impairment that required use of hearing aid. MtDNA haplogroup U was more prevalent among patients with maternal family history of DM. We conclude that among young adults, ~1 % of all DM is associated with the m.3243A > G mutation. We suggest that all patients with both DM and hearing impairment, at least in this age group, should undergo investigation for this mutation. Furthermore, our results suggest that mtDNA haplogroup U is associated with maternal family history of DM.
authors.affiliation: Department of Neurology, University of Turku and Turku University Hospital, Turku, Finland, mikmar@utu.fi.
authors.forename: Mika H
authors.initials: MH
authors.lastname: Martikainen
authors.forename: Tapani
authors.initials: T
authors.lastname: Rönnemaa
authors.forename: Kari
authors.initials: K
authors.lastname: Majamaa
mesh_terms: D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000209:etiology*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005787:Gene Frequency; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications* / Q000453:epidemiology*; D017720:Molecular Epidemiology; D017354:Point Mutation; D015995:Prevalence; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial