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IDENTIFICATION OF PINK1 AND PRKN MUTATION IN PARKINSON’S DISEASE PATIENTS
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Abstract
Background: Parkinson's disease is a common neurodegenerative disorder in the elderly after only Alzheimer's. The disease is due to the selective degeneration of substantia nigra dopaminergic neuron, resulting in a decrease in dopamine content, affecting the transmission of nerve signals for muscle contraction. Molecular biology techniques have proven that genetic factors play a crucial in the progression of Parkinson's disease. Objectives: To identify mutations of the PINK1 gene and PRKN gene in Parkinson’s disease patients by Sanger sequencing method. Materials and methods: 30 patients with a confirmed diagnosis of Parkinson's according to the criteria of the United Kingdom Parkinson’s Disease Society Brain Bank. Direct sequencing method was used to identify PINK1 gene and PRKN gene mutations. Results: 13.33% of cases had PINK1 gene and PRKN gene mutations, with 3 different mutations. All of the mutations belong to heterozygous and most of them are nucleotide substitutions. Conclusions: 3.33% of cases had PINK1 gene mutations, 10.0% of cases had PRKN gene mutations. 02 patients carried the c.1010G>A(p.Cys337Tyr) mutation, 01 patients carried the c.823C>T(p.Arg275Trp) on the PRKN gene; 1 patient carried the c.1273C>T(p.Pro425Ser) mutation on the PINK1 gene. The result of evaluating the influence on the protein function of c.1010G>A(p.Cys337Tyr) mutation on the PRKN gene by in silico tools was “pathogenic.
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Keywords
Parkinson’s disease, mutation, PINK1 gene, PRKN gene
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