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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Villela, Darine ; Suemoto, Claudia K. ; Pasqualucci, Carlos A. ; Grinberg, Lea T. ; Rosenberg, Carla
Total Authors: 5
Document type: Journal article
Source: FRONTIERS IN GENETICS; v. 7, JUN 14 2016.
Web of Science Citations: 1

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