Mutations in the tropoelastin gene (ELN) were not found in patients with spontaneous cervical artery dissections.

Abstract

The majority of patients with spontaneous cerebral artery dissection show ultrastructural alterations in dermal collagen and elastic fibers. We studied the gene encoding tropoelastin (ELN) by reverse transcription-polymerase chain reaction and subsequent sequence analysis in 10 patients with abnormalities in their elastic fibers. No mutations were found in the whole coding region of the ELN gene. The simultaneous visualization and quantification of ELN splice variants by gene scanning enabled the analysis of the regulation of alternative splicing of ELN mRNA. No differences could be detected between fibroblast cultures of the patients and a control subject. Neither mutations in the ELN gene nor dysregulation of its activity appears to be the cause of the connective tissue disorder that is found in most patients with spontaneous dissections.