BIOMAT Database Logo BIOMAT Database Logo

Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. 1992

H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Third Department of Internal Medicine, University of Tokyo, Japan.

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.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001786 Blood Glucose Glucose in blood. Blood Sugar,Glucose, Blood,Sugar, Blood
D003062 Codon A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons
D003924 Diabetes Mellitus, Type 2 A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY. Diabetes Mellitus, Adult-Onset,Diabetes Mellitus, Ketosis-Resistant,Diabetes Mellitus, Maturity-Onset,Diabetes Mellitus, Non-Insulin-Dependent,Diabetes Mellitus, Slow-Onset,Diabetes Mellitus, Stable,MODY,Maturity-Onset Diabetes Mellitus,NIDDM,Diabetes Mellitus, Non Insulin Dependent,Diabetes Mellitus, Noninsulin Dependent,Diabetes Mellitus, Noninsulin-Dependent,Diabetes Mellitus, Type II,Maturity-Onset Diabetes,Noninsulin-Dependent Diabetes Mellitus,Type 2 Diabetes,Type 2 Diabetes Mellitus,Adult-Onset Diabetes Mellitus,Diabetes Mellitus, Adult Onset,Diabetes Mellitus, Ketosis Resistant,Diabetes Mellitus, Maturity Onset,Diabetes Mellitus, Slow Onset,Diabetes, Maturity-Onset,Diabetes, Type 2,Ketosis-Resistant Diabetes Mellitus,Maturity Onset Diabetes,Maturity Onset Diabetes Mellitus,Non-Insulin-Dependent Diabetes Mellitus,Noninsulin Dependent Diabetes Mellitus,Slow-Onset Diabetes Mellitus,Stable Diabetes Mellitus
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260 Female Females

Related Publications

H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
April 1992, Nature,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Polymorphism of glucokinase gene in non-insulin dependent diabetes mellitus.
January 1994, The Korean journal of internal medicine,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects.
March 1994, Diabetic medicine : a journal of the British Diabetic Association,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Analysis of the glucokinase gene in Mexican families displaying early-onset non-insulin-dependent diabetes mellitus including MODY families.
November 1997, American journal of medical genetics,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.
December 1992, The Journal of clinical endocrinology and metabolism,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family.
May 1993, Diabetologia,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus.
February 1994, Diabetologia,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.
March 1992, Nature,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
Glucokinase and non-insulin-dependent diabetes.
July 1993, Clinical endocrinology,
H Katagiri, and T Asano, and H Ishihara, and K Inukai, and M Anai, and J Miyazaki, and K Tsukuda, and M Kikuchi, and Y Yazaki, and Y Oka
[Glucokinase and non-insulin-dependent diabetes: from gene to disease].
January 1993, Journees annuelles de diabetologie de l'Hotel-Dieu,
Copied contents to your clipboard!