Missense Mutation of Amylin Gene (S20G) in Japanese NIDDM Patients

Author:

Sakagashira Setsuya1,Sanke Tokio1,Hanabusa Tadashi1,Shimomura Hiroko1,Ohagi Shinya1,Kumagaye Kumiko Y2,Nakajima Kiichiro1,Nanjo Kishio1

Affiliation:

1. Department of Medicine Osaka, Japan

2. Wakayama University of Medical Science, Wakayama, and the Peptide Institute Osaka, Japan

Abstract

Many studies suggest that amylin, which is cosecreted with insulin from islet β-cells, is a biologically active peptide and modulates plasma glucose levels. We therefore scanned the amylin gene for mutations in 294 Japanese NIDDM patients by single-strand conformational polymorphism, and we found a single heterozygous missense mutation (Ser→Gly at position 20: S20G mutation) in 12 NIDDM patients (frequency 4.1%). None of the 187 nondiabetic subjects or 59 IDDM patients had the mutation. Of 12 patients carrying the mutation, 8 were diagnosed as having NIDDM at a relatively early age (≤35 years), and they had severe diabetes and strong family histories of late-onset NIDDM. On the other hand, the remaining four patients were diagnosed as having NIDDM after age 51, and they had mild diabetes without family histories of diabetes. In high-performance liquid chromatography analysis, a small amount (16%) of amylin immunoreactivity appeared in the position corresponding to normal amylin and a much larger amount (84%) appeared in the position corresponding to mutant amylin. These findings suggest that the S20G mutation of the amylin gene may play a partial role in the pathogenesis of early-onset NIDDM in the Japanese population and may also provide an important model to investigate the true physiological action of amylin.

Publisher

American Diabetes Association

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

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