Mutations

PSEN1 V97L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.22974G>T
Genomic Mutation Name (NT1): g.39528G>T
dbSNP ID: rs63750852
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: GTG to TTG

Findings

This rare missense mutation was identified in a Han Chinese family. The reported pedigree consisted of three affected individuals over four generations. The affected family members were diagnosed with probable Alzheimer's disease according to NINCDS-ADRDA criteria. The mean age of onset was 36.5 ± 15.9 years. The mutation was present in all three affected individuals and absent in five healthy family members and 50 healthy unrelated controls (Jia et al., 2005).

Neuropathology

Postmortem analysis was unavailable, but MRI from two mutation carriers showed enlarged lateral ventricles and atrophy of the cerebral cortex, especially the temporal lobes (Jia et al., 2005).

Biological Effect

Human neuroblastoma cells (SH-SY5Y) transfected with V97L PSEN1 had elevated intracellular and extracellular Aβ42 compared to mock-transfected cells and those expressing wild-type PSEN1 (Fang et al., 2006).

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References

Paper Citations

  1. . One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. J Alzheimers Dis. 2005 Apr;7(2):119-24; discussion 173-80. PubMed.
  2. . Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. Neurosci Lett. 2006 Oct 2;406(1-2):33-7. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. J Alzheimers Dis. 2005 Apr;7(2):119-24; discussion 173-80. PubMed.