Association between gene polymorphism and pathophysiology of Alzheimer's disease (CROSBI ID 604969)
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Podaci o odgovornosti
Pivac, Nela
engleski
Association between gene polymorphism and pathophysiology of Alzheimer's disease
Alzheimer’s disease (AD) is frequent disease with a high prevalence, affecting aging societies. The more rare form of disease, early onset or sporadic AD, is highly heritable and caused by the 3 autosomal dominant genes: amyloid precursor protein, presenilin 1 and 2. However, the etiology of the more frequent form, a late onset AD, is complicated by the interaction of environmental factors (primarily older age) with the multiple genes with the small effects. Within many genes contributing to a risk for AD, the first discovered were mutations on the apolipoprotein E gene and later on SORL1 gene. The polymorphisms with the 2, 3, and 4 alleles are associated with AD, and APOE 4 is the risk allele. In addition, genes for ABC transporter member 7, bridging integrator protein-1, CD33 antigen, CD2-associated protein, clusterin, complement receptor type 1, membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A)/membrane spanning 4-domains, subfamily A, member 4E/membrane-spanning 4-domains, subfamily A, member 6A, ephrin receptor EphA1, and phosphatidylinositol binding clathrin assembly protein, were confirmed to increase the risk for AD. Since different phenotypes are associated with mutations in these and other genes encoding brain pathways and structures involved in the development of characteristic neuropathologic findings (amyloid plaques and neurofibrillary tangles), further studies with sufficiently large sample sizes should focus on specific endophenotypes (biomarkers from the cerebrospinal fluid, cognitive or neuroimaging data), unrevealing the genetic complexity of AD and additional responsible risk genes, allowing better understanding of the AD etiology and offering new therapeutic approaches.
gene polymorphisms; Alzheimer's disease
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Podaci o prilogu
43-43.
2013.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
7th Croatian congress of pharmacology with international participation
pozvano predavanje
18.09.2013-21.09.2013
Zagreb, Hrvatska
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti