Vztah polymorfismů v genech pro ApoE a ACE k Alzheimerově chorobě

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Title in English THE ASSOCIATION OF POLYMORPHISMS IN THE APOE AND ACE GENES FOR ALZHEIMER DISEASE
Authors

VARGOVÁ Lýdia JANOUT Vladimír PEŠÁK Lukáš LOCHMAN Jan ŠERÝ Omar

Year of publication 2013
Type Article in Proceedings
Conference XV. celostátní konference biologické psychiatrie s mezinárodní účastí v Luhačovicích
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords Alzheimer’s disease; Abeta protein; apolipoprotein E; angiotensin converting enzyme (ACE); polymorphism
Description Alzheimer disease (AD) is a progressive neurodegenerative disease.In this pathogenesis plays an important role lipid metabolism in which is involved apolipoprotein E. ApoE mRNA are also found in brain tissue, where it is synthesized by astrocytes and microglia. ApoE is participate in the growth and regeneration of neurons and affects synaptic plasticity. The ApoE gene is located at the 19 chromosome. There are known two single nucleotide polymorphism, which encoding three isoforms ApoE2, ApoE3 and ApoE4. ApoE4 allele significantly increases the risk of AD, which is associated with an increased amount of cholesterol in the brain tissue, which also increases the production of Abeta protein. In our study, we confirmed the risk of Alzheimer disease associated with the ApoE4 allele (RR= 2.1098, OR= 2.4632, p= 0,00000002). The development of AD may also contribute to I / D polymorphism of the ACE gene. ACE is also involved in Abeta protein degradation. In our sample we found no statistically significant difference in allelic and genotypic frequencies.
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