Abstract:
:Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combination with a sensorineural hearing loss, is maternally inherited. The maternal inheritance and the observed decrease in mitochondrial enzyme activities of the respiratory chain indicate a genetic defect in the mitochondrial DNA. An A to G transition was identified at nucleotide 3,243, a conserved position in the mitochondrial gene for tRNA(Leu)(UUR). This mutation cosegregates with the disease in this family and is absent in controls, and indicates that a point mutation in mitochondrial DNA is a pathogenetic factor for NIDDM.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
van den Ouweland JM,Lemkes HH,Ruitenbeek W,Sandkuijl LA,de Vijlder MF,Struyvenberg PA,van de Kamp JJ,Maassen JAdoi
10.1038/ng0892-368keywords:
subject
Has Abstractpub_date
1992-08-01 00:00:00pages
368-71issue
5eissn
1061-4036issn
1546-1718journal_volume
1pub_type
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