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Cited by 70Metabolism, Diabetes, and CancerGenetic Associations and EpidemiologyDiabetes, Cardiovascular Risks, and Lipoproteins

Molecular Scanning of Insulin-Responsive Glucose Transporter (GLUT4) Gene in NIDDM Subjects

Choi, Woong-Hwan, O'Rahilly, Stephen, Buse, John B, Rees, Alan, Morgan, Ruth, Flier, Jeffrey S, Moller, David E·1991·Diabetes
DOI 10.2337/diab.40.12.1712
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Abstract

We investigated the prevalence of mutations in the gene encoding the major insulin-responsive facilitative glucose transporter (GLUT4) in patients with non-insulin-dependent diabetes mellitus (NIDDM). All 11 exons of the GLUT4 gene from 30 British white subjects with NIDDM were amplified using the polymerase chain reaction and screened for nucleotide sequence variation using the single-stranded conformation polymorphism (SSCP) method. No variation between the study subjects was detected in exons 1–3, 4b–8, and 10. Variant SSCP patterns were detected in exons 4a and 9. SSCP variation in exon 4a was revealed by direct nucleotide sequencing to be due to a common silent polymorphism (AAC→AAT at Asn130). One NIDDM patient demonstrated a variant SSCP pattern in exon 9. This was caused by a point mutation (GTC→ATC) at codon 383, which leads to the conservative substitution of isoleucine for valine in the putative fifth extracellular loop of the transporter. Allele-specific oligonucleotide hybridization was used to examine the frequency of this mutation in 240 Welsh white subjects (160 with NIDDM and 80 controls). The Val→lle383 mutation was found in the heterozygous state in two diabetic subjects and no control subjects. We conclude that mutations of the GLUT4 coding sequence are very uncommon in this population of subjects with typical NIDDM. Determining whether the lle383 GLUT4 variant present in 3 diabetic subjects contributes in any way to their disease will require further study.

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  • Mutations in the GLUT4 gene are very uncommon in type 2 diabetics and, when detected, have questionable physiologic significance.

    “Large populations of type 2 diabetics have been screened for mutations in the GLUT4 gene [196]. Such mutations are very uncommon and, when detected, have been of questionable physiologic significance.”

    From Pathogenesis of insulin resistance in skeletal muscle (2010) · cites this paper as [196]

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Authors
Choi, W.-H., O'Rahilly, S., Buse, J. B., Rees, A., Morgan, R., Flier, J. S., & Moller, D. E.
Affiliations
  • Howard Hughes Medical Institute (US)
  • Charles A. Dana Research Institute and Harvard-Thomdike Laboratory of Beth Israel Hospital, Department of Medicine, Beth Israel Hospital and Harvard Medical School Boston, Massachusetts; the Howard Hughes Medical Institute and the Departments of Biochemistry and Molecular Biology and Medicine, The University of Chicago Chicago, Illinois; and the Department of Medicine, University Hospital of Wales Cardiff, Wales, United Kingdom
ORCID
Venue
Diabetes
Publisher
American Diabetes Association
Published
1991-12-01
Volume
40
Issue
12
Pages
1712-1718
ISSN
  • 0012-1797 (ISSN-L)
  • 1939-327X
DOI
10.2337/diab.40.12.1712
OpenAlex
W2089659331
Cited by
70
References
0
Citations by year
2025: 1 · 2024: 1 · 2021: 1 · 2019: 2 · 2018: 2 · 2017: 1 · 2015: 3 · 2014: 1 · 2013: 1 · 2012: 1
FWCI
2.78
Type
journal article
Language
en
Open access
closed
Locations
  • Diabetes (publishedVersion)
  • PubMed (publishedVersion)
Funders
U.S. Public Health Service (28082-10)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolism, Diabetes, and Cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
Keywords
GLUT4, glucose transporters, type 2 diabetes, genetic mutations, silent polymorphism, extracellular loop, allele-specific oligonucleotide hybridization, genetic susceptibility
MeSH terms
Alleles, Amino Acid Sequence, Base Sequence, Codon, Diabetes Mellitus, Type 2, DNA, Exons, Genes, Humans, Insulin, Molecular Sequence Data, Monosaccharide Transport Proteins, Mutation, Nucleic Acid Hybridization, Oligodeoxyribonucleotides, Polymorphism, Genetic, Genetic Variation, Polymerase Chain Reaction

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