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Recent study revealed that missense mutations in the vascular smooth muscle cell-specific isoform of α-actin (ACTA2) gene cause a variety of vascular diseases, including thoracic aortic aneurysms and dissections, premature coronary artery disease, stroke, and moyamoya disease [1]. In addition, a novel missense mutation of ACTA2 was also found in sporadic patients with spontaneous cervical artery dissection [2]. These observations raised the possibility that ACTA2 mutations may be involved in the development of spontaneous cerebral artery dissection (SCAD).

SCAD is one of the most common reasons for young stroke. However, the etiology of SCAD is still poorly understood. Genetic factors may play an important role in the pathogenesis of SCAD [3]. In the present study, we tested the hypothesis that ACTA2 is also a potential disease-causing gene for SCAD.

We performed a mutational analysis of the ACTA2 gene in 103 digital subtraction angiography (DSA)-confirmed Chinese SCAD patients, including 72 subjects with cervical artery dissection (male/female = 48/24, mean age 48·4 ± 10·6 years) and 31 subjects with vertebral artery dissection (male/female = 23/8, mean age 43·8 ± 7·9 years). The nine exons and flanking intronic regions of ACTA2 were sequenced directly. However, we did not find any mutation in the coding region of the ACTA2 gene. Our data suggest that ACTA2 is not a major disease-causing gene for SCAD, especially for Chinese SCAD patients. Further studies are required to identify a responsible gene for SCAD.

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  2. References
  • 1
    Guo DC, Papke CL, Tran-Fadulu V et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009; 84:617627.
  • 2
    Wiest T, Grond-Ginsbach C, Werner I, Kotelis D, Geisbuesch P, Boeckler D. No evidence for a potential role of mutations in the ACTA2 gene in the etiology of cervical artery dissections and thoracic aortic aneurysms. Cerebrovasc Dis 2009; 27:119.
  • 3
    Debette S, Markus HS. The genetics of cervical artery dissection: a systematic review. Stroke 2009; 40:e459466.