Investigating the Pathogenic Single Nucleotide Polymorphisms of MTND۵ Gene by Bioinformatics Tools

Background: Mitochondrial is one of the most essential organelles in cells that play importantroles in numerous biological processes For example, it has been confirmed that mitochondrialtake charge of supplying cellular energy through generating adenosine triphosphate (ATP) incells. The Mt-nd۵ (mitochondrial encoded NADH: ubiquinone oxidoreductase core subunit ۵)Gene offers instructions for growing a protein referred to as NADH dehydrogenase ۵. Thisprotein is part of a huge complicated enzyme referred to as complicated I. Mutations in the MTND۵gene are responsible for cases of the disease such as lactic acidosis, mitochondrialencephalopathy, stroke-like episodes (MELAS), and Leber. This study aimed to investigate theone single nucleotide polymorphism (SNP) in genes MT-ND۵ using tools in Silico and predicttheir pathogenicity.Materials and Methods: In this study with a search in the NCBI database among the recognizedpolymorphism in this MT-ND۵ gene, ۸۲۹ missense variants are fined. Then, analyzed thepathogenicity of SNP using bioinformatics tools including sift, poly phen, I-Mutant۲.۰.Results: According to the Sift, poly phen result A۲۳۶T, F۱۲۴L, E۱۴۵G could be diseasecausing.I-Mutant۲.۰ predicted decreased stability A۲۳۶T, F۱۲۴L, E۱۴۵G alteration.Conclusion: According to the results, it can be said that these changes in amino acids causeprobably damaging and pathogenic SNP and also affect the polarity and solubility of aminoacids.