Differential glycosaminoglycan expression and hyaluronan homeostasis in juvenile hyaline fibromatosis
| Autor: | Ioannis Klagas, Thrasivoulos Tzellos, Eleni Papakonstantinou, George Karakiulakis, Alexander Dionyssopoulos, Lambis Lazaridis |
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| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty Skin Neoplasms Biopsy Dermatan Sulfate Down-Regulation Fibroma Dermatology Biology Dermatan sulfate Extracellular matrix Glycosaminoglycan Pathogenesis chemistry.chemical_compound Hyaluronic acid medicine Homeostasis Humans Chondroitin sulfate Glucuronosyltransferase Hyaluronic Acid Child Hyaline Skin Electrophoresis Agar Gel Extracellular Matrix Proteins Chondroitin Sulfates medicine.disease Hyaluronan Receptors chemistry Female Juvenile hyaline fibromatosis Hyaluronan Synthases |
| Zdroj: | Journal of the American Academy of Dermatology. 61:629-638 |
| ISSN: | 0190-9622 |
| DOI: | 10.1016/j.jaad.2009.03.042 |
| Popis: | Background Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease characterized histologically by deposition of hyaline material and clinically by multiple skin lesions. Clarification of the molecular and structural changes involved in JHF skin lesions may unravel targets for pharmacotherapy. Objective We sought to investigate the expression of glycosaminoglycans and their metabolizing enzymes in lesional as compared with lesion-free skin tissue specimens in JHF. Methods Glycosaminoglycans were isolated, purified, and fractionated by electrophoresis on cellulose acetate membranes and agarose gels. Hyaluronic acid (HA) was quantitated by enzyme-linked immunosorbent assay and the expression of HA metabolizing enzymes was investigated using reverse transcriptase-polypeptide chain reaction. Results JHF lesions exhibited significantly less HA and elevated amounts of dermatan sulfate and chondroitin sulfate, whereas gene expression of HA synthase-1 and HA synthase-3 was significantly down-regulated, as compared with lesion-free skin tissue specimens. Limitations Because JHF is a rare disease, a limitation to our study was that we collected skin tissue specimens from only one patient. Conclusion The significant alterations of HA homeostasis in JHF lesions provide further understanding of JHF pathogenesis and may offer a target for pharmacologic intervention to treat the skin lesions associated with JHF. |
| Databáze: | OpenAIRE |
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