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MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Dong-chuan Guo1, Limin Gong1, Ellen S Regalado1

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Genetic variants in the MAT2A gene are linked to thoracic aortic disease, including aneurysms and dissections, in families with no other known genetic causes. This discovery sheds light on the genetic basis of these serious cardiovascular conditions.

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Genetics

Background:

  • Thoracic aortic disease (TAAD) often has a familial component, even in individuals without syndromic features.
  • Genetic heterogeneity is a known factor in familial TAAD.
  • Identifying specific genes is crucial for understanding disease mechanisms and inheritance patterns.

Purpose of the Study:

  • To identify novel genes predisposing individuals to thoracic aortic aneurysms and dissections (TAAD).
  • To investigate the role of the MAT2A gene in the pathogenesis of familial TAAD.

Main Methods:

  • Whole-genome linkage analysis and exome sequencing were performed on families with autosomal-dominant TAAD.
  • Rare variants in MAT2A were identified and segregated with the disease.
  • Functional studies in zebrafish (morpholino knockdown and mRNA rescue experiments) were conducted.
  • Population and structural analyses were used to assess variant significance.

Main Results:

  • A rare variant (c.1031A>C, p.Glu344Ala) in MAT2A was identified in a large family with TAAD.
  • Another rare MAT2A variant (c.1067G>A, p.Arg356His) was found in unrelated TAAD probands.
  • These variants are conserved across species and impair MAT IIα enzyme function.
  • MAT2A deficiency in zebrafish disrupted cardiovascular development, and human MAT2A variants failed to rescue these defects.

Conclusions:

  • Rare genetic variants in MAT2A predispose individuals to thoracic aortic aneurysms and dissections.
  • MAT2A variants disrupt methionine adenosyltransferase II alpha (MAT IIα) function, contributing to TAAD.
  • This study expands the genetic landscape of thoracic aortic disease.