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

Autor(es)

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

• Tipo de documento: Artigo Científico
• Fonte: FRONTIERS IN GENETICS; v. 7, JUN 14 2016.
• Citações Web of Science: 1

Resumo

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)

• Processo FAPESP: 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental
• Beneficiário: Carla Rosenberg
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 10/15503-0 - Desequilíbrios genômicos nas manifestações anatomopatológicas e cognitivas da Doença de Alzheimer
• Beneficiário: Darine Christina Maia Villela
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
• Beneficiário: Mayana Zatz
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs