Matrix metalloproteinase-3 gene polymorphism and dilatative pathology of ascending thoracic aorta

Vaiva Lesauskaite1, Giedre Sinkūnaite, Rimantas Benetis

  • 1Institute of Cardiology, Kaunas University of Medicine, Lithuania. vaiva.lesauskaite@med.kmu.lt

Insights

The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not linked to dilatative aortic pathology. However, males with this condition and the 5A/5A genotype had surgery at a younger age.

Area of Science:

  • Genetics
  • Cardiovascular Science
  • Molecular Biology

Background:

  • Matrix metalloproteinase-3 (MMP-3) degrades extracellular matrix, potentially contributing to ascending thoracic aorta dilatative pathology.
  • MMP-3 expression is influenced by the 5A/6A polymorphism in its promoter region, with more 5A alleles correlating with higher expression.

Purpose of the Study:

  • To investigate the association between the MMP-3 gene's 5A/6A promoter polymorphism and the development of dilatative ascending thoracic aorta pathology.
  • To determine if this genetic variation impacts the age of onset for aortic reconstruction surgery in affected males.

Main Methods:

  • Genotyping of the 5A/6A polymorphism in the MMP-3 gene promoter using real-time polymerase chain reaction.
  • Comparison of genotype and allele frequencies between patients with dilatative ascending thoracic aorta pathology and a general population sample from Lithuania.

Main Results:

  • The prevalence of MMP-3 genotypes and the frequency of the 5A allele were similar between patients with aortic pathology and the control group.
  • Male patients with the 5A/5A genotype underwent aortic reconstruction surgery at a significantly younger age compared to those with the 6A/6A genotype.

Conclusions:

  • The 5A/6A polymorphism in the MMP-3 promoter is not significantly associated with the development of dilatative ascending thoracic aorta pathology.
  • In males with this condition, the 5A/5A genotype is linked to an earlier age of requiring aortic reconstruction surgery.

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
Thoracic Aorta01:15

Thoracic Aorta

The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...