CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population

Journal of Biomedical Science
Alice HálováOmar Šerý

Abstract

Cholinergic hypothesis of Alzheimer's disease (AD) is based on the findings that a reduced and/or perturbed cholinergic activity in the central nervous system correlates with cognitive decline in patients with Alzheimer's disease. The hypothesis resulted in the development of centrally-acting agents potentiating cholinergic neurotransmission; these drugs, however, only slowed down the cognitive decline and could not prevent it. Consequently, the perturbation of the central cholinergic signalling has been accepted as a part of the Alzheimer's aetiology but not necessarily the primary cause of the disease. In the present study we have focused on the rs3810950 polymorphism of ChAT (choline acetyltransferase) gene that has not been studied in Czech population before. We carried out an association study to test for a relationship between the rs3810950 polymorphism and Alzheimer's disease in a group of 1186 persons; 759 patients with Alzheimer's disease and 427 control subjects. Furthermore, we performed molecular modelling of the terminal domain (1st-126th amino acid residue) of one of the ChAT isoforms (M) to visualise in silico whether the rs3810950 polymorphism (A120T) can change any features of the tertiary structure of the prot...Continue Reading

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Citations

May 21, 2021·Gene Therapy·Walter LerchnerBarry J Richmond

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

PyMOL
PyMOL Molecular Graphics System
Schrodinger Maestro
R
VMD
R Foundation for Statistical Computing

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