title: Mutation analysis of chromosome 19 calmodulin (CALM3) gene in Alzheimer's disease patients.
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.
authors.affiliation: Department of Physiopathology and Human Molecular Genetics, Centro de Investigaciones Biológicas (CSIC), Velázquez, Madrid, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Ibarreta
authors.forename: J
authors.initials: J
authors.lastname: Tao
authors.forename: R
authors.initials: R
authors.lastname: Parrilla
authors.forename: M S
authors.initials: MS
authors.lastname: Ayuso
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D002147:Calmodulin / Q000235:genetics*; D002460:Cell Line; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D004854:Herpesvirus 4, Human / Q000235:genetics; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000502:physiology; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D014170:Transformation, Genetic
chemical_list: D002147:Calmodulin; D002118:Calcium