Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?

Author(s)

Villela, Darine ; Suemoto, Claudia K. ; Pasqualucci, Carlos A. ; Grinberg, Lea T. ; Rosenberg, Carla

• Document type: Journal article
• Source: FRONTIERS IN GENETICS; v. 7, JUN 14 2016.
• Web of Science Citations: 1

Abstract

Dysregulation of calcium (Ca2+) homeostasis is now being recognized to be a key step in the pathogenesis of Alzheimer's disease (AD). Data from the literature, in particular the association between AD and polymorphism that interfere with Ca2+ homeostasis indicates the presence of genetic factors in this process; further, presenilins mutations, which are known to cause the familial form of AD, are involved in the regulation of intracellular Ca2+ stores. Here, we wish to draw attention to rare DNA copy number variations identified in two subjects with late-onset AD that led to partial or full duplication of genes that encode different subunits of the same type of voltage-gated Ca(2+)channels; these duplications of voltage-gated Ca2+ channel genes is consistent with the critical role of calcium signaling in molecular processes underlying memory as has been demonstrated by several studies. (AU)

• FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
• Grantee: Carla Rosenberg
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 10/15503-0 - Genomic imbalances on the anatomopathological and cognitive manifestations of Alzheimer’s Disease
• Grantee: Darine Christina Maia Villela
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
• Grantee: Mayana Zatz
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC