NDLI: RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

Please wait, while we are loading the content...

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease

Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients

Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

Complex segregation analysis reveals a multigene model for lung cancer

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family

Human Genetics : Volume 115

Human Genetics : Volume 114

Human Genetics : Volume 113

Human Genetics : Volume 112

Human Genetics : Volume 111

Human Genetics : Volume 110

Human Genetics : Volume 109

Human Genetics : Volume 108

Human Genetics : Volume 107

Human Genetics : Volume 106

Human Genetics : Volume 105

Human Genetics : Volume 104

Human Genetics : Volume 103

Human Genetics : Volume 102

Human Genetics : Volume 101

Human Genetics : Volume 100

Human Genetics : Volume 99

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

Content Provider	Springer Nature Link
Author	Booms, Patrick Pregla, Reinhard Ney, Andreas Barthel, Frank Reinhardt, Dieter P. Pletschacher, Angelika Mundlos, Stefan Robinson, Peter N.
Copyright Year	2004
Abstract	The Marfan syndrome (MFS), a relatively common autosomal dominant disorder of connective tissue, is caused by mutations in the gene for fibrillin-1 (FBN1). Fibrillin-1 is the main component of the 10- to 12-nm microfibrils that together with elastin form elastic fibers found in tissues such as the aortic media. Recently, FBN1 mutations have been shown to increase the susceptibility of fibrillin-1 to proteolysis in vitro, and other findings suggest that up-regulation of matrix metalloproteinases (MMP), as well as fragmentation of microfibrils, could play a role in the pathogenesis of MFS. In the present work, we have investigated the influence of fibrillin-1 fragments on the expression of MMP-1, MMP-2, and MMP-3 in a cell culture system. Cultured human dermal fibroblasts were incubated with several different recombinant fibrillin-1 fragments. The expression level of MMP-1, MMP-2, and MMP-3, was determined by quantitative reverse transcriptase-polymerase chain reaction (RT-PCR), and the concentration of the corresponding proteins was estimated by quantitative Western blotting. Our results establish that treatment of cultured human dermal fibroblasts with recombinant fibrillin-1 fragments containing the arginine–glycine–aspartic acid (RGD) integrin-binding motif of fibrillin-1 induces up-regulation of MMP-1 and MMP-3. A similar effect was seen upon stimulation with a synthetic RGD peptide. The expression of MMP-2 was not influenced by treatment. Our results suggest the possibility that fibrillin fragments could themselves have pathogenic effects by leading to up-regulation of MMPs, which in turn may be involved in the progressive breakdown of microfibrils thought to play a role in MFS.
Starting Page	51
Ending Page	61
Page Count	11
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	116
Issue Number	1-2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2004-10-23
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Analysis of the fibrillin-1 gene (FBN1) in patients with Marfan syndrome

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

Altered tissue behavior of a non-aneurysmal descending thoracic aorta in the mouse model of Marfan syndrome

Therapy of Marfan Syndrome

Biogenesis and function of fibrillin assemblies

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome

Similar Documents

Analysis of the fibrillin-1 gene (FBN1) in patients with Marfan syndrome

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

Altered tissue behavior of a non-aneurysmal descending thoracic aorta in the mouse model of Marfan syndrome

Therapy of Marfan Syndrome

Biogenesis and function of fibrillin assemblies

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome