Mutations in the hepatocyte nuclear factor-1α gene (mody3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in japanese

ABSTRACT Maturity-onset diabetes of the young (MODY3), a monogenic subtype of non-insulin-dependent diabetes mellitus (NIDDM) with an early age of onset, is characterized by a primary defect

in insulin secretion. Recently, it has been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor-1α (HNF-1α) cause MODY3. Since NIDDM in Japanese is

characterized by insulin secretory defects due to primary β-cell dysfunction, we screened 60 Japanese nonobese subjects with early-onset NIDDM for mutations in this gene, 45 of whom had a

first-degree relative with NIDDM. Direct sequencing of the ten exons and flanking introns of the gene in these subjects identified eight nucleotide substitutions including two amino acid

changes, Ile-27-Leu and Ser-487-Asn, the frequencies of which were not significantly different in subjects with early-onset NIDDM and nondiabetic subjects. These results suggest that

mutations in the _HNF-1_α gene are not a major cause of early-onset NIDDM in Japanese. SIMILAR CONTENT BEING VIEWED BY OTHERS TWO NOVEL PATHOGENIC _PDX1_ VARIANTS IN TWO JAPANESE PATIENTS

WITH MATURITY-ONSET DIABETES OF THE YOUNG Article Open access 16 May 2025 MONOGENIC DIABETES Article 09 March 2023 REDUCED CALCIUM LEVELS AND ACCUMULATION OF ABNORMAL INSULIN GRANULES IN

STEM CELL MODELS OF HNF1A DEFICIENCY Article Open access 02 August 2022 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Cell Biology, Institute for Molecular and

Cellular Regulation, Gunma University, 3-39-15 Showa-machi, Maebashi, Gunma 371-8512, Japan Tel. +81-272-20-8830; Fax +81-272-20-8889 e-mail: [email protected],, Japan Hidekazu

Nishigori, Shirou Yamada & J. Takeda * Department of Molecular Medicine, Institute for Molecular and Cellular Regulation, Gunma University, Japan Toshiyuki Takeuchi * Department of

Pediatrics, Gunma University School of Medicine, Maebashi, Gunma, Japan, Japan Shirou Yamada * Department of Laboratory Medicine, Gunma University School of Medicine, Maebashi, Gunma, Japan,

Japan Tomoko Kohama * First Department of Internal Medicine, Gunma University School of Medicine, Maebashi, Gunma, Japan, Japan Hiroyuki Shimizu * Second Department of Internal Medicine,

Gunma University School of Medicine, Maebashi, Gunma, Japan, Japan Toshihiro Utsugi Authors * Hidekazu Nishigori View author publications You can also search for this author inPubMed Google

Scholar * Shirou Yamada View author publications You can also search for this author inPubMed Google Scholar * Tomoko Kohama View author publications You can also search for this author

inPubMed Google Scholar * Toshihiro Utsugi View author publications You can also search for this author inPubMed Google Scholar * Hiroyuki Shimizu View author publications You can also

search for this author inPubMed Google Scholar * Toshiyuki Takeuchi View author publications You can also search for this author inPubMed Google Scholar * J. Takeda View author publications

You can also search for this author inPubMed Google Scholar ADDITIONAL INFORMATION Received: September 17, 1997 / Accepted: November 19, 1997 RIGHTS AND PERMISSIONS Reprints and permissions

ABOUT THIS ARTICLE CITE THIS ARTICLE Nishigori, H., Yamada, S., Kohama, T. _et al._ Mutations in the hepatocyte nuclear factor-1α gene (_MODY3_) are not a major cause of early-onset

non-insulin-dependent (type 2) diabetes mellitus in Japanese. _J Hum Genet_ 43, 107–110 (1998). https://doi.org/10.1007/s100380050049 Download citation * Published: 01 June 1998 * Issue

Date: June 1998 * DOI: https://doi.org/10.1007/s100380050049 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a

shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Maturity-onset diabetes of the

young (MODY) * Mutation screening * Direct sequencing