Polymorphisms of COMT (c.649G>A), MAO-A (c.1460C>T), NET (c.1287G>A) Genes and the Level of Catecholamines, Serotonin in Patients with Parkinson's Disease

Jolanta Florczak-Wyspianska, Agata Rozycka, Lukasz Wolny, Margarita Lianeri, Wojciech Kozubski, Jolanta Dorszewska
DNA and Cell Biology 2017, 36 (6): 501-512
The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls. The study was performed in 49 PD patients, 19 parkinsonism patients, and 48 controls. The level of NE, E, and 5-HT was determined by HPLC/EC. PCR-RFLP was conducted to analyze the COMT, MAO-A, and NET polymorphisms. Genotypes of COMT, MAO-A, and NET genes occurred with different frequencies in patients with movement disorders and controls. NET AA occurred 4.8 times more frequently in patients with parkinsonism than in PD (p < 0.05). COMT AA genotype was associated with increased E levels [E (I) p < 0.01, E (II) p < 0.05] in PD compared to controls. Patients with parkinsonism with MAO-A TT genotype have a significantly higher level of 5-HT [5-HT (II), p < 0.05] compared to controls. Moreover, PD patients with NET GA genotype have the lowest level of NE (p < 0.05) compared to controls. It appears that COMT, MAO-A, and NET polymorphisms and levels of NE, E, and 5-HT are involved in pathogenesis of PD.

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