[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)].
MIDD is a maternally inherited disorder with diabetes and impaired hearing due to a reduced perception of high tones. The disorder is caused by an A to G mutation at position 3243 in mitochondrial DNA. Approximately 1.3% of insulin-dependent diabetic patients in the Netherlands has this mutation. The main defect in these patients seems to be a reduced secretion of insulin by the pancreas in response to glucose stimulation.
Maassen
J A
JA
Afd. Moleculaire Celbiologie, Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden.
van den Ouweland
J M
JM
Losekoot
M
M
Lemkes
H H
HH
D000225:Adenine / Q000378:metabolism; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006147:Guanine / Q000378:metabolism; D006316:Hearing Loss, High-Frequency / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007328:Insulin / Q000378:metabolism*; D000078790:Insulin Secretion; D008297:Male; D009154:Mutation / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D010179:Pancreas / Q000378:metabolism; D015995:Prevalence; D012343:RNA, Transfer / Q000235:genetics
D004272:DNA, Mitochondrial; D007328:Insulin; D006147:Guanine; D012343:RNA, Transfer; D000225:Adenine