[A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)].
Diabetes mellitus comprises many subtypes, the pathogenesis of each of which involves a combination of inherited and environmental factors. Recently a new subtype of diabetes mellitus was recognized in a Dutch pedigree, designated as 'maternally inherited diabetes and deafness' (MIDD). Impaired hearing is an associated phenomenon of the disease. Approximately 1.3% of all diabetic cases in the Netherlands exhibit the MIDD subtype. MIDD shows a strictly maternal heredity. In MIDD there is a guanine-for-adenine substitution at position 3243 in mitochondrial DNA. Mitochondria carrying this mutation exhibit a decreased functionality. In carriers of the MIDD mutation the insulin secretion by the pancreas in response to stimulation by glucose is impaired.
Maassen
J A
JA
Rijksuniversiteit, vakgroep Medische Biochemie, Leiden.
Jansen
J J
JJ
van den Ouweland
J M
JM
Hart
L M
LM
van Essen
E H
EH
Lemkes
H H
HH
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000145:classification / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D014158:Transcription, Genetic
D004272:DNA, Mitochondrial