Naslov
Association between gene polymorphisms and pathophysiology of Alzheimer's disease
(Association between gene polymorphism and pathophysiology of Alzheimer's disease)

Autori
Pivac, Nela

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Periodicum Biologorum / Vitale, Branko - Zagreb, 2013, 43-43

Skup
7th Croatian congress of pharmacology with international participation

Mjesto i datum
Zagreb, Hrvatska, 18.09.2013. - 21.09.2013

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
gene polymorphisms; Alzheimer's disease

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA