Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains
FH Lin, R Lin, HM Wisniewski, YW Hwang… - Biochemical and …, 1992 - Elsevier
FH Lin, R Lin, HM Wisniewski, YW Hwang, I Grundke-Iqbal, G Healy-Louie, K Iqbal
Biochemical and biophysical research communications, 1992•ElsevierPoint 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.
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.
Summary
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.
Elsevier