Evaluation of genetic mutation PLA2G6 gene in Parkinson's disease by WES method with using bioinformatics analysis

چکیده مقاله

Introduction : In the last decade, Whole ExomeSequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to Parkinson disease research. The recent research focus is to identify the function of genes and proteins involved in the genetic forms of Parkinson's disease that will help us better understand the genetic pathogenesis of the disease. This study provides a detailed analysis of mutations in the genes associated with Parkinson's disease that significantly advance our knowledge of clinical changes, brain imaging, and pathological features of the disease Materials and Methods: We select the PLA2G6 gene candidate variant from the annotation file, first we check it with 1000GENOME, ESP 6500 databases. Then using reported mutations in known genes according to the Human Genome Mutations Database are available from http://www.hgmd.org. For bioinformatics analysis, all genes and mutations of this disease were first extracted using the HGMD site. Then, the effect of mutations on disease was evaluated using POLY PHEN and SIFT site separately. Common mutations were extracted and analyzed statistically. Results: According to studies on large families, genes associated with Parkinson's disease was identified as follows: PLA2G6autosomal recessive inheritance pattern are inherited from a patient's parent with muscle weakness and neuro developmental regression (speech, motor and cognition). Conclusion: After analysis, the genes associated with Parkinson's disease with WES method and bioinformatics sites were identified as follows: PLA2G6(C.C1715T/P.T572I) is common in many patients will determine role in the pathophysiology of Parkinson's disease.