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The Cystatin-C gene is not linked to early onset familial Alzheimer's disease.

Abstract
The APP717 mutations discovered in only a few early onset Alzheimer's disease (AD) families have confirmed the genetic heterogeneity of this disorder. To identify the other gene(s) involved in the disease we selected the protease inhibitor, Cystatin-C, as a candidate gene. Cystatin-C is an amyloidogenic protein causing hereditary cerebral haemorrhage with amyloidosis-Icelandic type (HCHWA-I). It is localised with the beta-amyloid peptide in the arterial walls of AD brains. We have analysed the segregation of a polymorphic marker in this gene in 8 early onset AD families. Two early onset families showed clear non-segregation of the marker with the disease. When the 8 families are analysed together (assuming only one other gene is involved), they present exclusion linkage criteria. These data indicate that Cystatin-C is not the site of the defect in 2 families and is not likely to be in the other families analysed. We conclude that the deposition of Cystatin-C in AD is a secondary event in the disease process, and that this gene is not pathogenic in familial AD.
AuthorsM Parfitt, R Crook, P Roques, M Rossor, M C Chartier-Harlin
JournalNeuroscience letters (Neurosci Lett) Vol. 154 Issue 1-2 Pg. 81-3 (May 14 1993) ISSN: 0304-3940 [Print] Ireland
PMID8361651 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Amyloid beta-Peptides
  • CST3 protein, human
  • Cerebrospinal Fluid Proteins
  • Cystatin C
  • Cystatins
  • Genetic Markers
Topics
  • Adult
  • Aged
  • Alzheimer Disease (genetics, metabolism)
  • Amyloid beta-Peptides (metabolism)
  • Cerebrospinal Fluid Proteins (genetics, metabolism)
  • Cystatin C
  • Cystatins (genetics)
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Middle Aged
  • Polymerase Chain Reaction

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