Evaluation of genetic mutation PLA۲G۶ gene in Parkinson’s disease by WES method with using bioinformatics analysis

Introduction: In the last decade, (WES) has become a common tool for identifying genetic causes of humaninherited disorders, and it has also recently been applied to Parkinson disease research. The recent researchfocus is to identify the function of genes and proteins involved in the genetic forms of Parkinson's diseasethat will help us better understand the genetic pathogenesis of the disease. This study provides a detailedanalysis of mutations in the genes associated with Parkinson's disease that significantly advance ourknowledge of clinical changes, brain imaging, and pathological features of the disease.Materials and Methods: Using the WES method, a file related to the PLA۲G۶ gene was prepared. First wecheck it with ۱۰۰۰GENOME, ESP ۶۵۰۰ databases. Then using reported mutations in known genes accordingto the Human Genome Mutations Database are available from http://www.hgmd.org. For bioinformaticsanalysis, all genes and mutations of this disease were first extracted using the HGMD site. Then, the effectof mutations on disease was evaluated using POLY PHEN and SIFT site separately. Common mutationswere extracted and analyzed statistically.Results: Genes associate with Parkinson's disease was identified as follows: PLA۲G۶ autosomal recessiveinheritance pattern are inherited from a patient's parent with muscle weakness and neur developmentalregressionConclusion: After analysis, the genes associated with Parkinson's disease with WES method andbioinformatics sites were identified as follows: PLA۲G۶ (C.C۱۷۱۵T/P.T۵۷۲I ) is common in many patientswill determine role in the pathophysiology of Parkinson's disease Kalinderi K, Bostantjopoulou S, Fidani L.The genetic background of Parkinson's disease: current progress and future prospects. Acta Neurol Scand.(۲۰۱۶) ۱۳۴:۳۱۴–۲۶. doi: ۱۰.۱۱۱۱/ane.۱۲۵۶۳ Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ. The accuracyof diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain. ۲۰۰۲ Apr;۱۲۵(Pt۴):۸۶۱-۷۰. doi: ۱۰.۱۰۹۳/brain/awf۰۸۰. PMID: ۱۱۹۱۲۱۱۸.