Mutations in the tropoelastin gene (ELN) were not found in patients with spontaneous cervical artery dissections.
OBJECTIVE
The majority of patients with spontaneous cerebral artery dissection show ultrastructural alterations in dermal collagen and elastic fibers.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Grond-Ginsbach
C
C
Department of Neurology, University of Heidelberg, Germany. Caspar Grond-Ginsbach@med.uni-heidelberg.de
Thomas-Feles
C
C
Werner
I
I
Weber
R
R
Wigger
F
F
Hausser
I
I
Brandt
T
T
D000328:Adult; D000784:Aortic Dissection / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics*; D012008:Recurrence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure; D014333:Tropoelastin / Q000235:genetics*
D017931:DNA Primers; D005819:Genetic Markers; D012333:RNA, Messenger; D014333:Tropoelastin