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PMID: 1370613 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains.

Biochemical and biophysical research communications ·Vol. 182 ·No. 1 ·1992-01-15 ·Pages 238-46

Lin FH, Lin R, Wisniewski HM, Hwang YW, Grundke-Iqbal I, Healy-Louie G, Iqbal K

Abstract

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.

MeSH Terms

Adult Aged Aged, 80 and over Alzheimer Disease/enzymology,genetics Amino Acid Sequence Base Sequence Cerebral Cortex/enzymology Codon/genetics DNA, Mitochondrial/genetics Gene Library Humans Middle Aged Mitochondria/enzymology Molecular Sequence Data Mutation NADH Dehydrogenase/genetics Oligodeoxyribonucleotides Poly A/genetics Polymerase Chain Reaction/methods RNA/genetics RNA, Messenger Restriction Mapping

Chemicals

Codon DNA, Mitochondrial Oligodeoxyribonucleotides RNA, Messenger Poly A RNA NADH Dehydrogenase

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Lin F H

New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.

Lin R

Wisniewski H M

Hwang Y W

Grundke-Iqbal I

Healy-Louie G

Iqbal K

Article Info

Journal

Biochemical and biophysical research communications

Abbr.

Biochem Biophys Res Commun

ISSN

0006-291X

DOI

10.1016/s0006-291x(05)80136-6

Published

1992-01-15

Pages

238-46

Language

English

Region

United States

NLM ID

0372516

Subset

Databases

GENBANK

D10271, D10272, D10273, D10274, D10275, D10276, M84512, M84513, S75895, S75896

External Links

PubMed source DOI: 10.1016/s0006-291x(05)80136-6 View journal details

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Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains.

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