Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
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.
Shoffner
J M
JM
Department of Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Brown
M D
MD
Torroni
A
A
Lott
M T
MT
Cabell
M F
MF
Mirra
S S
SS
Beal
M F
MF
Yang
C C
CC
Gearing
M
M
Salvo
R
R
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
D004272:DNA, Mitochondrial; D004275:DNA, Ribosomal; D012335:RNA, Ribosomal; D012336:RNA, Ribosomal, 16S; D012352:RNA, Transfer, Glu; C075526:RNA, ribosomal, 12S; D009245:NADH Dehydrogenase