title: In Silico Analysis of SNPs inPARK2andPINK1Genes That Potentially Cause Autosomal Recessive Parkinson Disease.
abstract: Introduction. Parkinson's disease (PD) is a common neurodegenerative disorder. Mutations inPINK1are the second most common agents causing autosomal recessive, early onset PD. We aimed to identify the pathogenic SNPs inPARK2andPINK1using in silico prediction software and their effect on the structure, function, and regulation of the proteins.Materials and Methods. We carried out in silico prediction of structural effect of each SNP using different bioinformatics tools to predict substitution influence on protein structure and function.Result. Twenty-one SNPs inPARK2gene were found to affect transcription factor binding activity. 185 SNPs were found to affect splicing. Ten SNPs were found to affect the miRNA binding site. Two SNPs rs55961220 and rs56092260 affected the structure, function, and stability of Parkin protein. InPINK1gene only one SNP (rs7349186) was found to affect the structure, function, and stability of the PINK1 protein. Ten SNPs were found to affect the microRNA binding site.Conclusion. Better understanding of Parkinson's disease caused by mutations inPARK2andPINK1genes was achieved using in silico prediction. Further studies should be conducted with a special consideration of the ethnic diversity of the different populations.
authors.affiliation: Department of Basic Medical Sciences, Faculty of Dentistry, University of Khartoum, Khartoum, Sudan.
authors.forename: Yousuf Hasan Yousuf
authors.identifier: 0000-0003-3669-7367
authors.initials: YH
authors.lastname: Bakhit
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, Elrazi University, Khartoum, Sudan.
authors.forename: Mohamed Osama Mirghani
authors.initials: MO
authors.lastname: Ibrahim
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
authors.forename: Mutaz
authors.identifier: 0000-0003-2876-0784
authors.initials: M
authors.lastname: Amin
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
authors.forename: Yousra Abdelazim
authors.initials: YA
authors.lastname: Mirghani
authors.affiliation: Department of Biotechnology, Africa City of Technology, Khartoum, Sudan.
authors.forename: Mohamed Ahmed Salih
authors.initials: MA
authors.lastname: Hassan