[Diabetes mellitus associated with the mitochondrial mutation A3243G: frequency and clinical presentation].
Maternal inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial RNA Leu (UUR) at base pair 3243. The prevalence of MIDD in the diabetes population ranges between 0.5-3.0% depending on the ethnic background.


OBJECTIVE
To examine the frequency and clinical features of diabetes associated with this mutation in Brazilian patients with glucose intolerance.


METHODS
The study population comprised: 78 type 1 diabetic subjects (group I), 148 patients with type 2 diabetes (group II), 15 patients with either type 1 or type 2 diabetes and hearing loss (group III) and 492 Japanese Brazilians with varying degrees of glucose intolerance. DNA was extracted from peripheral blood leucocytes and the A3243G mutation was determined by PCR amplification and Apa 1 digestion. In some individuals DNA was also extracted from buccal mucosa and hair follicles. The 3243 bp mutation was found in three individuals, all from group III, resulting in a prevalence of 0.4%. These subjects had an early age of diagnosis of diabetes, low or normal body mass index and requirement of insulin therapy. In conclusion MIDD is rare in our population and should be investigate in patients with diabetes and deafness.
Departamento de Medicina, Universidade Federal de São Paulo, Rua Botucatu 740, 04034-970 São Paulo, SP.
João Eduardo N
JE
Salles
Larissa Bresgunov
LB
Kalinin
Sandra Roberta G
SR
Ferreira
Teresa
T
Kasamatsu
Regina S
RS
Moisés
D000328:Adult; D001938:Brazil / Q000453:epidemiology; D050260:Carbohydrate Metabolism / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D018445:Infectious Disease Transmission, Vertical; D007564:Japan / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial