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Titolo:
Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients
Autore:
Yamada, Y; Kuroe, A; Li, Q; Someya, Y; Kubota, A; Ihara, Y; Tsuura, Y; Seino, Y;
Indirizzi:
Kyoto Univ, Grad Sch Med, Dept Metab & Clin Nutr, Sakyo Ku, Kyoto 6068507,Japan Kyoto Univ Kyoto Japan 6068507 Clin Nutr, Sakyo Ku, Kyoto 6068507,Japan
Titolo Testata:
DIABETES-METABOLISM RESEARCH AND REVIEWS
fascicolo: 3, volume: 17, anno: 2001,
pagine: 213 - 216
SICI:
1520-7552(200105/06)17:3<213:GVIPIC>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
CALCIUM-CHANNEL; SULFONYLUREA RECEPTOR; BETA-CELLS; MUTATIONS; MELLITUS; SUBUNIT; NIDDM; IDENTIFICATION; POLYMORPHISMS; CAUCASIANS;
Keywords:
kir6.2; CACNL1A2; PCR-SSCP; type 2 diabetes;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Yamada, Y Kyoto Univ, Grad Sch Med, Dept Metab & Clin Nutr, Sakyo Ku, Shogoin Kawahara Cho, Kyoto 6068507, Japan Kyoto Univ Shogoin Kawahara Cho Kyoto Japan 6068507 8507, Japan
Citazione:
Y. Yamada et al., "Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients", DIABET M R, 17(3), 2001, pp. 213-216

Abstract

Background Many genetic diseases are caused by mutations in ion channel genes. Because type 2 diabetes is characterized by pancreatic beta -cell insensitivity to glucose, the genes responsible for glucose metabolism and calcium signaling in pancreatic beta -cells are candidate type 2 diabetes susceptibility genes. Methods We have examined genomic Variations in two ion channel genes relevant to the molecular pathology of diabetes mellitus, the Kir6.2 subunit of the ATP-sensitive potassium channel gene and alpha (1D) subunit of the voltage-dependent calcium channel (VDCC) gene among Japanese type 2 diabetic patients. Results There are two alleles in the Kir6.2 gene: EI, glutamic acid at codon 23 and isoleucine at codon 337 and KV, lysine at codon 23 and valine at codon 337. The allelic frequencies of these polymorphisms are similar in type 2 diabetic patients and normal subjects. We also detected trinucleotide repeat polymorphisms in the amino terminus and the carboxyl terminal regionof the alpha (1D) gene. Expansion of the ATG trinucleotide repeat from seven to eight was detected only in type 2 diabetic patients, but the frequency was low and was similar in type 2 diabetic patients and normal subjects. Conclusions Although variations of the Kir6.2 and alpha (1D) genes are notassociated with the development of common type 2 diabetes, further studiesmay determine the role of these genomic variations, especially those in the alpha (1D) VDCC gene, in the pathogenesis of certain subsets of type 2 diabetes, or as a co-factor in the polygenic disorder generally. Copyright (C) 2001 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 14:57:52