In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
May 2023
in “
Pharmaceuticals
”
TLDR Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
The study investigates the impact of non-synonymous single nucleotide polymorphisms (nsSNPs) in the LIPH gene associated with hypotrichosis, a rare form of hair loss. Using bioinformatics tools, 9 out of 215 nsSNPs were identified as potentially harmful, with three specific mutations (W108R, C246S, and H248N) being clinically significant. These mutations were predicted to adversely affect the LIPH protein's structure and function, leading to decreased stability and pathological impacts. Molecular dynamics simulations revealed significant structural changes in mutant proteins compared to the wild-type. The findings highlight the role of these nsSNPs in hair follicle maturation and provide a foundation for future studies and drug discovery, particularly in personalized medicine for hypotrichosis.
