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 18-45years) 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.