Abstract
A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141l), was identified in affected people from Volga German AD kindreds. This N141l mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adult
-
Aged
-
Alzheimer Disease / ethnology
-
Alzheimer Disease / genetics*
-
Amino Acid Sequence
-
Base Sequence
-
Chromosome Mapping
-
Chromosomes, Human, Pair 1 / genetics*
-
Cloning, Molecular
-
DNA, Complementary / genetics
-
Female
-
Gene Expression
-
Germany / ethnology
-
Humans
-
Lod Score
-
Male
-
Membrane Proteins / chemistry
-
Membrane Proteins / genetics*
-
Middle Aged
-
Molecular Sequence Data
-
Mutation
-
Pedigree
-
Point Mutation
-
Presenilin-2
Substances
-
DNA, Complementary
-
Membrane Proteins
-
PSEN2 protein, human
-
Presenilin-2
-
Psen2 protein, mouse