Tzellos Thrasivoulos G, Dionyssopoulos Alexander, Klagas Ioannis, Karakiulakis George, Lazaridis Lambis, Papakonstantinou Eleni
Second Department of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
J Am Acad Dermatol. 2009 Oct;61(4):629-38. doi: 10.1016/j.jaad.2009.03.042. Epub 2009 Jun 25.
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.
We sought to investigate the expression of glycosaminoglycans and their metabolizing enzymes in lesional as compared with lesion-free skin tissue specimens in JHF.
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.
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.
Because JHF is a rare disease, a limitation to our study was that we collected skin tissue specimens from only one patient.
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.
青少年透明纤维瘤病（JHF）是一种罕见的常染色体隐性疾病，组织学特征为透明物质沉积，临床上表现为多发性皮肤病变。阐明JHF皮肤病变所涉及的分子和结构变化可能有助于揭示药物治疗的靶点。
我们试图研究JHF患者病变皮肤组织标本与无病变皮肤组织标本中糖胺聚糖及其代谢酶的表达情况。
通过在醋酸纤维素膜和琼脂糖凝胶上进行电泳，分离、纯化和分级糖胺聚糖。采用酶联免疫吸附测定法定量透明质酸（HA），并使用逆转录-聚合酶链反应研究HA代谢酶的表达。
与无病变皮肤组织标本相比，JHF病变组织中的HA含量显著降低，硫酸皮肤素和硫酸软骨素含量升高，而HA合酶-1和HA合酶-3的基因表达显著下调。
由于JHF是一种罕见疾病，我们研究的一个局限性是仅从一名患者收集了皮肤组织标本。
JHF病变中HA稳态的显著改变有助于进一步了解JHF的发病机制，并可能为治疗与JHF相关的皮肤病变提供药物干预靶点。
