Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains.
Point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 (ND2) were detected in 10 of 19 Alzheimer's brains but not in 11 normal brains. The same mutations were also detected in 2 of 6 patients with amyotrophic lateral sclerosis (ALS). However, neurofibrillary tangles and neuritic plaques characteristic of Alzheimer's disease were found histologically in the brain of one ALS patient who was positive of the mutation. The finding suggests that a point mutation in ND2 is a potential risk factor for Alzheimer's disease.
New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
F H
FH
Lin
R
R
Lin
H M
HM
Wisniewski
Y W
YW
Hwang
I
I
Grundke-Iqbal
G
G
Healy-Louie
K
K
Iqbal
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002540:Cerebral Cortex / Q000201:enzymology*; D003062:Codon / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D015723:Gene Library; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D009838:Oligodeoxyribonucleotides; D011061:Poly A / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D012313:RNA / Q000235:genetics; D012333:RNA, Messenger; D015183:Restriction Mapping
D003062:Codon; D004272:DNA, Mitochondrial; D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D011061:Poly A; D012313:RNA; D009245:NADH Dehydrogenase