Mutation analysis of chromosome 19 calmodulin (CALM3) gene in Alzheimer's disease patients

Neurosci Lett. 1997 Jul 4;229(3):157-60. doi: 10.1016/s0304-3940(97)00453-9.

Abstract

The calcium buffering capacity of lymphoblasts from patients suffering of late onset Alzheimer's disease (AD) has been reported to be diminished. Calmodulin is a calcium binding protein codified by three genes, one of them (CALM3) maps to chromosome 19, nearby a gene, apoE, associated with late onset AD. In this study we screened for structural changes in the CALM3 gene from AD patients by PCR-SSCP analysis. We observed several point mutations in the intronic flanking regions of exons 3 and 4 of CALM 3 gene. However, we failed to detect any structural changes in the regions encoding the calcium binding domains of this gene. Similar results were obtained by RT-PCR analysis of CALM3 transcripts from AD patients carrying apoE epsilon4 allele. It is concluded that structural alterations in the CALM3 gene are not associated with the altered Ca2+ homeostasis shown by lymphoblasts from these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Calcium / metabolism
  • Calmodulin / genetics*
  • Cell Line
  • Chromosomes, Human, Pair 19*
  • DNA Mutational Analysis
  • Exons / genetics
  • Herpesvirus 4, Human / genetics
  • Homeostasis / physiology
  • Humans
  • Lymphocytes / cytology
  • Lymphocytes / physiology
  • Middle Aged
  • Polymerase Chain Reaction
  • Transformation, Genetic

Substances

  • Calmodulin
  • Calcium