Brief Genetics Report: Identification of Mutations in the Hepatocyte Nuclear Factor-1α Gene in Japanese Subjects With Early-Onset NIDDM and Functional Analysis of the Mutant Proteins

摘要

Maturity-onset diabetes of the young (MODY) is a monogenic form of NIDDM with onset usu- ally before 25 years of age (1). It has been shown that the third type of MODY (MODY3) results from mutations in the gene encoding hepatocyte nuclear factor (HNF)-1α (2), a homeodomain-containing transcription factor (3), which was originally identified I liver and is also expressed in some other tissues, including pancreatic β-cells. Recent screening for mutations in the HNF-1α gene in racially different groups of patients with MODY has shown that defects in this gene are a common Cause of MODY in France (25-50/100), U. K. (73/100), and Japan (～20/100) (4-6).