Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase...

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a potentially lethal metabolic disorder, is often associated with single-nucleotide polymorphisms (SNPs) in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene. The current research investigates the structural and functional implications of these genetic variants through diverse bioinformatics techniques. A range of in silico techniques were utilized to thoroughly evaluate the effect of nonsynonymous SNPs. Molecular docking and molecular dynamics simulation evaluation comprehensively validated the mutational impact on protein's stability. Gene interaction analysis demonstrated that ACADM is involved in several cellular pathways and co-expression networks. Two nsSNPs, rs121434282 and rs200724875, were found to have a significant impact on the composition and functionality of ACADM. This research lays the foundation for precision medicine advancements, specifically against metabolic disorders. Thorough validation of the proposed nsSNPs, supported by animal models, is crucial for understanding their role in MCADD.