人类遗传性疾病是由于编码合成硫酸化糖胺聚糖的生物合成酶的基因突变引起的。
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
机构信息
Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido University, Sapporo 001-0021 Japan.
出版信息
J Biol Chem. 2013 Apr 19;288(16):10953-61. doi: 10.1074/jbc.R112.437038. Epub 2013 Mar 1.
Abstract
A number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of sulfated glycosaminoglycan (GAG) side chains of proteoglycans, including chondroitin sulfate, dermatan sulfate, and heparan sulfate. The phenotypes of these genetic disorders reflect disturbances in crucial biological functions of GAGs in human. Recent studies have revealed that mutations in genes encoding chondroitin sulfate and dermatan sulfate biosynthetic enzymes cause various disorders of connective tissues. This minireview focuses on growing glycobiological studies of recently described genetic diseases caused by disturbances in biosynthetic enzymes for sulfated GAGs.
摘要
许多遗传疾病是由于编码糖基转移酶和磺基转移酶的基因突变引起的，这些酶负责合成蛋白聚糖的硫酸化糖胺聚糖 (GAG) 侧链，包括硫酸软骨素、硫酸皮肤素和硫酸乙酰肝素。这些遗传疾病的表型反映了 GAG 在人类关键生物学功能中的紊乱。最近的研究表明，编码硫酸软骨素和硫酸皮肤素生物合成酶的基因突变会导致各种结缔组织疾病。这篇综述重点介绍了最近描述的由于合成酶紊乱引起的硫酸化 GAG 遗传疾病的不断发展的糖生物学研究。
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本文引用的文献
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