title: Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
abstract: Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNA(Gln) gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations.
authors.affiliation: Department of Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
authors.forename: J M
authors.initials: JM
authors.lastname: Shoffner
authors.forename: M D
authors.initials: MD
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Torroni
authors.forename: M T
authors.initials: MT
authors.lastname: Lott
authors.forename: M F
authors.initials: MF
authors.lastname: Cabell
authors.forename: S S
authors.initials: SS
authors.lastname: Mirra
authors.forename: M F
authors.initials: MF
authors.lastname: Beal
authors.forename: C C
authors.initials: CC
authors.lastname: Yang
authors.forename: M
authors.initials: M
authors.lastname: Gearing
authors.forename: R
authors.initials: R
authors.lastname: Salvo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D000828:Animal Population Groups / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004275:DNA, Ribosomal / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D009690:Nucleic Acid Conformation; D010300:Parkinson Disease / Q000235:genetics*; D010802:Phylogeny; D010944:Plants / Q000235:genetics; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012335:RNA, Ribosomal / Q000235:genetics*; D012336:RNA, Ribosomal, 16S / Q000235:genetics*; D012352:RNA, Transfer, Glu / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics; D013045:Species Specificity; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D004275:DNA, Ribosomal; D012335:RNA, Ribosomal; D012336:RNA, Ribosomal, 16S; D012352:RNA, Transfer, Glu; C075526:RNA, ribosomal, 12S; D009245:NADH Dehydrogenase