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Structure-function studies on non-synonymous SNPs of chemokine receptor gene implicated in cardiovascular disease: a

A Sai Ramesh1, Rao Sethumadhavan, Padma Thiagarajan

  • 1School of Biosciences and Technology, VIT University, Vellore, 632014, Tamil Nadu, India.

The Protein Journal
|December 3, 2013
PubMed

Insights

Cardiovascular disease (CVD) is a leading cause of death. This study identifies four key mutations in the chemokine (C-C Motif) receptor 5 (CCR5) gene, L55Q, V131F, R223W, and G301R, as potential contributors to CVD development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Research

Background:

  • Cardiovascular disease (CVD) is the primary global cause of mortality.
  • The chemokine (C-C Motif) receptor 5 (CCR5) gene is implicated in CVD development and myocardial infarction.
  • Genetic variations, particularly single nucleotide polymorphisms (SNPs), are associated with disease risk.

Purpose of the Study:

  • To investigate potential variations in the CCR5 gene associated with cardiovascular disease.
  • To screen deleterious non-synonymous SNPs and analyze their structural impact on the CCR5 protein.
  • To identify specific CCR5 mutations that may contribute to the pathogenesis of CVD.

Main Methods:

  • In silico screening of deleterious single nucleotide polymorphisms (SNPs) using prediction tools.
  • Molecular dynamics simulations to assess the impact of mutations on protein structure and stability.
  • Analysis of root mean square deviation (RMSD) and stability residues using SWISS-PDB viewer and SRide server.
  • Trajectory analysis of selected point mutations (L55Q, V131F, R223W, G301R) with RMSD ≥2.0 Å.

Main Results:

  • Four deleterious non-synonymous SNPs (L55Q, V131F, R223W, G301R) in the CCR5 gene were identified.
  • Molecular dynamics simulations revealed significant structural and stability changes for these mutants compared to the native CCR5 protein.
  • Trajectory analyses indicated distinct conformational differences between the native and mutated CCR5 proteins.

Conclusions:

  • The identified mutations L55Q, V131F, R223W, and G301R in the CCR5 gene are potential drivers of cardiovascular disease.
  • These mutations may alter CCR5 protein function, contributing to the development of CVD.
  • Further investigation into these CCR5 variants could offer insights into CVD pathogenesis and therapeutic strategies.

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