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February 23, 2026Journal of Biomolecular Structure and Dynamics

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis

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Authors

SRS. RanjaniSNSidharth Kumar NNPN. Madhana Priya

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Overview

Computational analysis evaluates pyrimethamine's effects on HEXA mutations in Tay-Sachs disease, suggesting promising treatment strategies.

Key Points

  • The aim is to analyze the impact of mutations in the HEXA gene on Tay-Sachs disease using computational methods.
  • Collected 158 missense mutations from various databases
  • Applied in-silico analysis using tools like Meta-SNP and ConSurf
  • Performed molecular docking to predict drug-protein binding sites
  • Conducted molecular dynamics simulations to assess protein stability
  • Identified W474C and W485R mutations associated with disease
  • W485R exhibited greater structural deviation than native protein
  • Pyrimethamine was shown to raise intracellular HEXA levels in patient fibroblasts

Cite This Study

Ranjani et al. (2026) studied this question.

synapsesocial.com/papers/699bee551c6c6bad5397fe94https://doi.org/10.1080/07391102.2026.2632159
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