Type III Collagen Deficiency in Saccular Intracranial Aneurysms
| Autor: | J.S.P. van den Berg, Martien Limburg, Gerard Pals, K. W. Albrecht, Fré Arwert, Andries Westerveld, R. C. M. Hennekam |
|---|---|
| Přispěvatelé: | Other departments |
| Rok vydání: | 1999 |
| Předmět: |
Genetic Markers
Pathology medicine.medical_specialty Biopsy Pathofysiologie van Hersenen en Gedrag Pathophysiology of Brain and Behaviour Polymerase Chain Reaction Pathogenesis Aneurysm Polymorphism (computer science) medicine Humans Point Mutation RNA Messenger cardiovascular diseases Allele Alleles Cells Cultured Polymorphism Single-Stranded Conformational Skin Advanced and Specialized Nursing Regulation of gene expression medicine.diagnostic_test business.industry Intracranial Aneurysm DNA Exons Fibroblasts Prognosis medicine.disease Null allele Gene Expression Regulation Tandem Repeat Sequences Skin biopsy cardiovascular system Collagen Neurology (clinical) Cardiology and Cardiovascular Medicine business |
| Zdroj: | Stroke; a journal of cerebral circulation, 30(8), 1628-1631. Lippincott Williams and Wilkins Stroke, 30, 1628-1631 Stroke, 30, 8, pp. 1628-1631 |
| ISSN: | 1524-4628 0039-2499 |
| Popis: | Background and Purpose —We sought to determine whether there are mutations in the COL3A1 gene in patients with saccular intracranial aneurysms with a type III collagen deficiency and whether there is an association between a marker in the COL3A1 gene and saccular intracranial aneurysms. One of the heritable factors possibly involved in the pathogenesis of saccular intracranial aneurysms is a reduced production of type III collagen, demonstrated earlier by protein studies. Methods —We analyzed the type III collagen gene in a group of 41 consecutive patients with an intracranial aneurysm, of whom 6 patients had shown a reduced production of type III collagen in cultured diploid fibroblasts from a skin biopsy. Results —No mutations could be demonstrated in the COL3A1 gene, especially not in the globular N- and C-terminal regions. A null allele was excluded in 25 patients, including 1 patient with a decreased type III collagen production. No differences were found between 41 patients and 41 controls in allele frequencies of a DNA tandem repeat polymorphism located in the COL3A1 gene. Conclusions —It is concluded that the COL3A1 gene is not directly involved in the pathogenesis of most of intracranial aneurysms. The reduced type III collagen production in cultured fibroblasts found in some patients with an intracranial aneurysm is not explained by the present study and needs further exploration. |
| Databáze: | OpenAIRE |
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