title: Mitochondrial 5178A/C genotype is associated with acute myocardial infarction.
abstract: A single nucleotide polymorphism of mitochondrial 5178A/C, causing a Met to Leu replacement within the NADH dehydrogenase subunit, is reported to be associated with longevity. The purpose of the present study was to assess the contribution of mitochondrial polymorphisms, particularly the 5178A/C genotype, to the susceptibility to acute myocardial infarction (AMI) in a Japanese study population. There were 4 groups: 150 patients with AMI, 150 with essential hypertension, 100 with diabetes mellitus, and 150 subjects matched for age and sex who served as the control group. Mitochondrial 5178A/C was detected by the polymerase chain reaction restriction fragment length polymorphism method. The allelic frequency of 5178C was significantly higher in the AMI group than in the control group, and this difference was more marked in younger patients. There were differences in allelic frequencies among the essential hypertension group, diabetes mellitus group and control group, but a higher frequency of the C allele was seen in the AMI group compared with the essential hypertension and diabetes mellitus groups. This particular polymorphism was found to be associated with development of AMI, especially in younger patients and constitutes a new risk factor for AMI.
authors.affiliation: Third Department of Internal Medicine, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Shuji
authors.initials: S
authors.lastname: Mukae
authors.forename: Shuichi
authors.initials: S
authors.lastname: Aoki
authors.forename: Seiji
authors.initials: S
authors.lastname: Itoh
authors.forename: Ryuji
authors.initials: R
authors.lastname: Sato
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Nishio
authors.forename: Toshiki
authors.initials: T
authors.lastname: Iwata
authors.forename: Takashi
authors.initials: T
authors.lastname: Katagiri
mesh_terms: D000368:Aged; D000375:Aging / Q000502:physiology; D000483:Alleles; D019943:Amino Acid Substitution; D004272:DNA, Mitochondrial / Q000235:genetics*; D048909:Diabetes Complications; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications; D006973:Hypertension / Q000150:complications; D007930:Leucine; D008297:Male; D008715:Methionine; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D004272:DNA, Mitochondrial; D008715:Methionine; D007930:Leucine