1st International and 10th National Iranian Conference on Bioinformatics
Home Accepted Papers
Evaluation of genetic mutation PLA2G6 gene in Parkinson's disease by WES method with using bioinformatics analysis
Paper ID : 1290-ICB10
Authors:
Shima Abbasnejad *1, zahra rezvani2
1Department of Biotechnology , Faculty of Chemistry , university of kashan , kashan,Iran
2Department of Biotechnology, Faculty of Chemistry, University of Kashan, Kashan, Iran
Abstract:
Introduction : In the last decade, (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 [1]. 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[2].
Materials and Methods: Using the WES method, a file related to the PLA2G6 gene was prepared. 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: Genes associate with Parkinson's disease was identified as follows: PLA2G6 autosomal recessive inheritance pattern are inherited from a patient's parent with muscle weakness and neur developmental regression
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
[1] Kalinderi K, Bostantjopoulou S, Fidani L. The genetic background of Parkinson's disease: current progress and future prospects. Acta Neurol Scand. (2016) 134:314–26. doi: 10.1111/ane.12563
[2] Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ. The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain. 2002 Apr;125(Pt 4):861-70. doi: 10.1093/brain/awf080. PMID: 11912118.
Keywords:
Whole Exome Sequencing (WES), Parkinson's disease, bioinformatics analysis,PLA2G6,
Status : Paper Accepted (Poster Presentation)