Abstract
BackgroundCervical artery dissection is a leading cause of cerebral ischemia in young adults. Morphological investigations have shown alterations in the extracellular matrix (ECM) of affected vessel walls. As matrix metalloproteinases (MMP) play a central role in the regulation of the ECM, an increased expression of these enzymes might lead to the endothelial damage in spontaneous cervical artery dissection (sCAD). Five different DNA polymorphisms in MMP-1, -3, -9 and -12 were tested for their frequency in patients with sCAD and compared with those of a control population.MethodsBlood was sampled from 70 unrelated patients presenting consecutively in the department of neurology of the Aachen University Medical School with sCAD and from 87 control subjects living in the same area as the patients. The MMP polymorphisms were analyzed with hybridization probes using the LightCycler™ (Roche Diagnostics), by sequencing using the ABI 310 Genetic Analyzer (Applied Biosystems) and with the GeneScan program on a ABI 310 Genetic Analyzer.ResultsNo statistically significant differences in the allelic distribution were found between sCAD patients and the controls.ConclusionAlleles of these 5 functional polymorphisms of MMPs seem not to be associated with structural alterations in the blood vessel wall of sCAD patients. However, this does not exclude a pathogenetic role for MMPs in sCAD via secondary factors such as cytokines that are able to induce these enzymes in cervical blood vessel walls.
Highlights
Cervical artery dissection is a leading cause of cerebral ischemia in young adults
Matrix metalloproteinases (MMP) are interesting candidate genes as they play a central role in the regulation of the extracellular matrix (ECM) and earlier studies in vascular pathologies have already shown evidence for an increased activity of matrix metalloproteinases (MMP) in the wall of affected blood vessels in aortic dissection [13]
The genotype distributions for all polymorphisms were compatible with those expected from the Hardy-Weinberg equilibrium, except for MMP-12 in patients
Summary
Cervical artery dissection is a leading cause of cerebral ischemia in young adults. Morphological investigations have shown alterations in the extracellular matrix (ECM) of affected vessel walls. As matrix metalloproteinases (MMP) play a central role in the regulation of the ECM, an increased expression of these enzymes might lead to the endothelial damage in spontaneous cervical artery dissection (sCAD). Morphological investigations have consistently shown alterations in the extracellular matrix (ECM) of skin biopsies even in patients without known connective tissue disorders Hereditary monogenic disorders such as vascular EhlersDanlos syndrome are rare in sCAD [11,12]. Matrix metalloproteinases (MMP) are interesting candidate genes as they play a central role in the regulation of the ECM and earlier studies in vascular pathologies have already shown evidence for an increased activity of MMPs in the wall of affected blood vessels in aortic dissection [13]. We investigated 5 polymorphisms in the promoter region of the MMP genes with a known increased expression rate of the corresponding enzyme as possible risk factors for sCAD [15,16,17,18,19]
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