Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

1995/08/18 by Ephrat Levy‐Lahad, Wilma Wasco, Parvoneh Poorkaj +16 · 4 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Alzheimer's disease research and treatments #Amino Acid Enzymes and Metabolism #Bioinformatics and Genomic Networks

paper · doi:10.1126/science.7638622

openalex publication_date 1995/08/18 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

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.

Citations

• Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14
• Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families
• Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Cited by

• Tau is a candidate gene for chromosome 17 frontotemporal dementia
• Reanalysis of the first case of Alzheimer’s disease
• The new genetics of schizophrenia
• Gerard Schellenberg [wikipedia]