Related Experiment Video

Updated: May 26, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms

Charlene Norgan Radler1, Kevin Ku1, Alison Hodge1

  • 1Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.

Current Issues in Molecular Biology
|February 25, 2025
PubMed

Insights

A novel COL3A1 gene variant, p.P517R, is linked to diffuse coronary aneurysms. This finding expands our understanding of collagen-related vascular diseases and their genetic underpinnings.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Biochemistry

Background:

  • The COL3A1 gene provides instructions for making a component of type III collagen, crucial for blood vessel structure.
  • Mutations in COL3A1 are associated with diseases like vascular Ehlers-Danlos syndrome and aortic aneurysms.

Observation:

  • A single nucleotide variant, p.P517R, was identified in exon 22 of the COL3A1 gene.
  • This variant was found in a patient with diffuse coronary aneurysms but no history of atherosclerosis or connective tissue disorders.

Findings:

  • Computational and in silico analyses predict that the p.P517R variant disrupts the structure and function of the alpha 1 chain of type III collagen.
  • This represents the first reported association between this specific COL3A1 variant and diffuse coronary aneurysms.

Implications:

  • This novel genotype-phenotype correlation warrants further research into the mechanisms linking COL3A1 variants to coronary artery disease.
  • Understanding these genetic links may lead to improved diagnostics and targeted therapies for collagen-mediated vascular conditions.

Keywords:
COL3A1collagen matrix proteincoronary artery aneurysmcoronary artery ectasiaextracellular matrixsingle nucleotide variant

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