Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus.
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 3394T-C mutation changed a conserved tyrosine to a histidine in NADH dehydrogenase subunit 1. The frequency of mtDNA 3994 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.
Hirai
M
M
Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
Suzuki
S
S
Onoda
M
M
Hinokio
Y
Y
Ai
L
L
Hirai
A
A
Ohtomo
M
M
Komatsu
K
K
Kasuga
S
S
Satoh
Y
Y
Akai
H
H
Toyota
T
T
D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D012356:RNA, Transfer, Leu / Q000235:genetics
D017931:DNA Primers; D004272:DNA, Mitochondrial; D046911:Macromolecular Substances; D012356:RNA, Transfer, Leu; D009245:NADH Dehydrogenase