MUTATION ANALYSIS OF CHROMOSOME-19 CALMODULIN (CALM3) GENE IN ALZHEIMERS-DISEASE PATIENTS

The calcium buffering capacity of lymphoblasts from patients suffering of late onset Alzheimer's disease (AD) has been reported to be dimini shed. Calmodulin is a calcium binding protein codified by three genes, one of them (CALM3) maps to chromosome 19, nearby a gene, apoE, assoc iated with late onset AD. in this study we screened for structural cha nges in the CALM3 gene from AD patients by PCR-SSCP analysis. We obser ved several point mutations in the intronic flanking regions of exons 3 and 4 of CALM 3 gene. However, we failed to detect any structural ch anges in the regions encoding the calcium binding domains of this gene . Similar results were obtained by RT-PCR analysis of CALMS transcript s from AD patients carrying apoE epsilon 4 allele. It is concluded tha t structural alterations in the CALMS gene are not associated with the altered Ca2+ homeostasis shown by lymphoblasts from these patients. ( C) 1997 Elsevier Science ireland Ltd.