Analysis of ACTA2 in European Moyamoya disease patients

Eur J Paediatr Neurol. 2011 Mar;15(2):117-22. doi: 10.1016/j.ejpn.2010.09.002. Epub 2010 Oct 20.


The discovery of common genetic patterns in different system vascular diseases may provide important insights into the pathogenesis of these severe medical conditions. Recently, the coincidence of mutations in ACTA2 (vascular smooth muscle cell specific isoform of α-actin) in families with thoracic aortic aneurysms and dissections (TAAD) and Moyamoya disease (MMD) was reported in patients of Northern European descent and a positive family history for TAAD and MMD. In this study, we analyzed the nine exons of the ACTA2 gene in central European patients with non-familial MMD, aiming to replicate previously described genetic findings and possibly identify further mutations. DNA sequencing of the nine exons and flanking intronic regions of ACTA2 was performed in 39 MMD patients with no family history for MMD or TAAD and 68 healthy controls of central European descent with custom made primers. One new mutation (R179H, heterozygous) in exon 6 of ACTA2 was found in one patient with MMD. We were not able to detect other previously described mutations. In contrast to a previous report, we did not identify significant sequence variations in ACTA2. Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / analysis*
  • Actins / genetics
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Cohort Studies
  • Europe / epidemiology
  • Europe / ethnology
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Middle Aged
  • Moyamoya Disease / ethnology
  • Moyamoya Disease / genetics
  • Moyamoya Disease / metabolism*
  • Mutation / genetics*
  • Young Adult


  • ACTA2 protein, human
  • Actins