Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus
H Katagiri, T Asano, H Ishihara, K Inukai, M Anai… - The Lancet, 1992 - Elsevier
H Katagiri, T Asano, H Ishihara, K Inukai, M Anai, Y Yazaki, Y Oka, J Miyazaki
The Lancet, 1992•ElsevierA nonsense mutation at codon 186 in exon 5 of the gene for glucokinase, an enzyme
important for glucose-induced insulin secretion, was identified in a Japanese patient with
late-onset non-insulin-dependent diabetes mellitus (NIDDM). All affected members of her
family were heterozygous for the mutation and had late-onset NIDDM or impaired glucose
tolerance, whereas unaffected members showed normal glucose tolerance. The early
insulin response to oral glucose was impaired in affected relatives, but was normal in those …
important for glucose-induced insulin secretion, was identified in a Japanese patient with
late-onset non-insulin-dependent diabetes mellitus (NIDDM). All affected members of her
family were heterozygous for the mutation and had late-onset NIDDM or impaired glucose
tolerance, whereas unaffected members showed normal glucose tolerance. The early
insulin response to oral glucose was impaired in affected relatives, but was normal in those …
Abstract
A nonsense mutation at codon 186 in exon 5 of the gene for glucokinase, an enzyme important for glucose-induced insulin secretion, was identified in a Japanese patient with late-onset non-insulin-dependent diabetes mellitus (NIDDM). All affected members of her family were heterozygous for the mutation and had late-onset NIDDM or impaired glucose tolerance, whereas unaffected members showed normal glucose tolerance. The early insulin response to oral glucose was impaired in affected relatives, but was normal in those unaffected. These findings suggest that the glucokinase mutation raises the set-point of pancreatic beta cells for glucose-induced insulin secretion, leading to abnormal glucose tolerance in some patients with late-onset NIDDM.
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