Lin F H, Lin R, Wisniewski H M, Hwang Y W, Grundke-Iqbal I, Healy-Louie G, Iqbal K
New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
Biochem Biophys Res Commun. 1992 Jan 15;182(1):238-46. doi: 10.1016/s0006-291x(05)80136-6.
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.
