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AuthorPook, Melanie Katharinadc.contributor.author
Date of accession2016-03-14T15:22:29Zdc.date.accessioned
Available in OPARU since2016-03-14T15:22:29Zdc.date.available
Year of creation2007dc.date.created
AbstractClassical Ehlers-Danlos Syndrome (EDS) is a rare disorder of connective tissue. So far, mutations in COL5A1 or COL5A2 or haploinsufficiency of one of these genes could be identified in only about half of the patients tested. This suggests genetic heterogeneity of the disease. The mouse knock out model for the small leucine rich proteoglycan decorin shows an important role for decorin in structure collagen assembly and control of fibril growth. Also, significant downregulation of decorin gene expression was shown in a group of patients with classical EDS. However, mutations of exons or splice junctions could not be found in the decorin gene within this patient group. The expression of decorin can be modulated by numerous factors such as TNF-alpha, IL-1beta and TGF-beta, and decorin promoter Ib contains several binding motifs for them. Therefore we analysed the sequence of promoter Ib in patients of this collective for mutations that could convey downregulation of decorin gene expression. Though, besides a polymorphism also detectable amongst fifty healthy individuals, we could not demonstrate any mutation in the sequence of promoter Ib of the decorin gene. So very probably mutations in the decorin promoter are not causal for decorin downregulation in these patients. Lumican is a proteoglycan similar to decorin. Its knock out mouse model also shows alterations in connective tissue formation and tensile strength, although the main symptom is a profound change in corneal structure with progressive clouding of the cornea. We investigated the expression of the proteoglycan lumican by quantitative northern blot in the same collective of patients for which decorin downregulation was previously demonstrated. Here we found a significant downregulation of the expression of lumican. This combined downregulation of decorin and lumican in patients with classical EDS may be due to a conjoint regulation of these two proteoglycans. Maybe collagen V genes could be involved in this regulation.dc.description.abstract
Languagededc.language.iso
PublisherUniversität Ulmdc.publisher
LicenseStandard (Fassung vom 03.05.2003)dc.rights
Link to license texthttps://oparu.uni-ulm.de/xmlui/license_v1dc.rights.uri
KeywordDecorindc.subject
KeywordLumicandc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
MeSHProteochondroitin sulfatesdc.subject.mesh
MeSHProteoglycansdc.subject.mesh
TitleSequenz- und Expressionsanalysen kleiner leucin-reicher Proteoglykane bei Patienten mit klassischem Ehlers-Danlos-Syndromdc.title
Resource typeDissertationdc.type
DOIhttp://dx.doi.org/10.18725/OPARU-1465dc.identifier.doi
URNhttp://nbn-resolving.de/urn:nbn:de:bsz:289-vts-64919dc.identifier.urn
GNDEhlers-Danlos-Syndromdc.subject.gnd
GNDProteoglykanedc.subject.gnd
FacultyMedizinische Fakultätuulm.affiliationGeneral
Date of activation2008-07-25T09:07:34Zuulm.freischaltungVTS
Peer reviewneinuulm.peerReview
Shelfmark print versionZ: J-H 11.924; W: W-H 11.410uulm.shelfmark
DCMI TypeTextuulm.typeDCMI
VTS ID6491uulm.vtsID
CategoryPublikationenuulm.category
Bibliographyuulmuulm.bibliographie


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