Mitochondrial DNA 3394 Mutation in the NADH Dehydrogenase Subunit 1 Associated with Non-Insulin-Dependent Diabetes Mellitus

• Published in: Biochemical and biophysical research communications Vol. 219; no. 3; pp. 951 - 955
• Main Authors: Hirai, Masashi, Suzuki, Susumu, Onoda, Masatoshi, Hinokio, Yoshinori, Ai, Liu, Hirai, Aki, Ohtomo, Masataka, Komatsu, Kouga, Kasuga, Shigeru, Satoh, Yoshinori, Akai, Hiroaki, Toyota, Takayoshi
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 27.02.1996
• Subjects: Base Sequence; Diabetes Mellitus, Type 2 - enzymology; Diabetes Mellitus, Type 2 - genetics; DNA Primers; DNA, Mitochondrial - genetics; Female; Humans; Macromolecular Substances; Male; Mitochondrial Encephalomyopathies - enzymology; Mitochondrial Encephalomyopathies - genetics; Molecular Sequence Data; NADH Dehydrogenase - chemistry; NADH Dehydrogenase - genetics; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; RNA, Transfer, Leu - genetics
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1006/bbrc.1996.0324

Mitochondrial DNA (mtDNA) mutation is associated with a subtype of non-insulin-dependent diabetes mellitus (NIDDM). We identified two homoplasmic mtDNA mutations at the positions of 3394 (T-C) and 3423 (G-T) in a NIDDM patient with clinical features of mitochondrial encephalopathy. The mtDNA 3394 T-C mutation changed a conserved tyrosine to a histidine in NADH dehydrogenase subunit 1. The frequency of mtDNA 3394 T-C mutation was determined with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in general NIDDM patients and nondiabetic control subjects. The mutation was seen in 4.9% of NIDDM patients and 1.3% of nondiabetic controls. It is indicated that the mtDNA 3394 T-C mutation is associated with NIDDM in Japan.