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Status |
Public on Oct 01, 2013 |
Title |
Gene expression in Dupuytren's disease |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by array
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Summary |
Dupuytren's disease (DD) is a classic example of pathological fibrosis which results in a debilitating disorder affecting a large sector of the human population. It is characterized by excessive local proliferation of fibroblasts and over-production of collagen and other components of the extracellular matrix (ECM) in the palmar fascia. The fibrosis progressively results in contracture of elements between the palmar fascia and skin causing flexion deformity or clawing of the fingers and a severe reduction in hand function. While much is known about the pathogenesis and surgical treatment of DD, little is known about the factors that cause its onset and progression, despite many years of research. Gene expression patterns in DD patients now offers the potential to identify genes that direct the pathogenesis of DD.
In this study, we used primary cultures of fibroblasts derived from excisional biopsies of fibrotic tissue from DD patients to compare the gene expression profiles on a genome-wide basis with normal control fibroblasts. Our investigations have identified genes that may be involved with DD pathogenesis including some which are directly relevant to fibrosis. In particular, these include significantly reduced expression levels of three matrix metallopeptidases (MMP1, MMP3, MMP16), follistatin, and STAT1, and significantly increased expression levels of fibroblast growth factors (FGF9, FGF11), a number of collagen genes and other ECM genes in DD patient samples. Many of these gene products are known to be involved in fibrosis, tumour formation and in the normal processes of tissue remodelling. In addition, alternative splicing was identified in some DD-associated genes. These highly sensitive genomic investigations provide new insight into the molecular mechanisms that may underpin the development and progression of DD.
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Overall design |
Four exon arrays of DD primary fibroblasts derived from fibrotic tissue were compared to fibroblasts derived from skin punch biopsies from individuals who did not show DD symptoms.
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Contributor(s) |
Sprung CN, Forrester HB, Temple-Smith P |
Citation(s) |
23554969 |
Submission date |
Oct 11, 2012 |
Last update date |
Feb 18, 2019 |
Contact name |
Carl Sprung |
E-mail(s) |
carl.sprung@monash.edu
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Organization name |
Monash University
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Department |
MIMR
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Street address |
27-31 Wright St
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City |
Clayton |
ZIP/Postal code |
3168 |
Country |
Australia |
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Platforms (1) |
GPL5175 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [transcript (gene) version] |
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Samples (10)
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Relations |
BioProject |
PRJNA177351 |
Supplementary file |
Size |
Download |
File type/resource |
GSE41524_RAW.tar |
235.1 Mb |
(http)(custom) |
TAR (of CEL) |
Processed data included within Sample table |
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