先天性糖基化障碍与肝脏疾病

库尔班江·阿布都西库尔; 王建设

doi:10.3969/j.issn.1001-5256.2019.08.006

先天性糖基化障碍与肝脏疾病

DOI: 10.3969/j.issn.1001-5256.2019.08.006

复旦大学附属儿科医院肝病科

详细信息

中图分类号: R575
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- 被引次数: 0
出版历程
- 收稿日期: 2019-06-26
- 出版日期: 2019-08-20

Congenital disorders of glycosylation and liver diseases

Department of Hepatology, Children's Hospital of Fudan University

摘要

摘要:
先天性糖基化障碍(CDG)是近年来快速增长的一组遗传代谢性疾病,由蛋白或脂肪的异常糖基化所致。随着二代测序技术的问世和普及,人类在不断发现新的糖基化相关基因突变导致的疾病。糖蛋白及糖脂合成是肝脏主要功能之一,众多的CDG影响肝胆结构及功能,可导致脂肪肝、肝纤维化及胆管板发育异常。阐述了CDG及相关肝脏病变的发病机制、诊断及治疗等方面的新进展。
- 先天性糖基化病 /
- 诊断 /
- 糖组学
Abstract:
Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.
- congenital disorders of glycosylation /
- diagnosis /
- glycomics

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参考文献(30)

[1] SCOTT K, GADOMSKI T, KOZICZ T, et al. Congenital disorders of glycosylation:New defects and still counting[J]. J Inherit Metab Dis, 2014, 37 (4) :609-617.

[2] JAEKEN J. Congenital disorders of glycosylation (CDG) :It's (nearly) all in it![J]. J Inherit Metab Dis, 2011, 34 (4) :853-858.

[3] JAEKEN J. Congenital disorders of glycosylation[J]. Handb Clin Neurol, 2013, 113:1737-1743.

[4] NG BG, FREEZE HH. Perspectives on glycosylation and its congenital disorders[J]. Trends Genet, 2018, 34 (6) :466-476.

[5] PANNE R, de LONLAY P, FOULQUIER F, et al. Congenital disorders of glycosylation (CDG) :Quo vadis?[J]. Eur J Med Genet, 2018, 61 (11) :643-663.

[6] JAEKEN J, PANNE R. What is new in CDG?[J]. J Inherit Metab Dis, 2017, 40 (4) :569-586.

[7] PARKS SE, KRASNEWICH DM. Congenital disorders of N-linked glycosylation and multiple pathway overview[M/OL]//ADAM MP, ARDINGER HH, PAGON RA, et al. GeneReviews. Seattle (WA) :University of Washington, Seattle.

[8] REILY C, STEWART TJ, RENFROW MB, et al. Glycosylation in health and disease[J]. Nat Rev Nephrol, 2019, 15 (6) :346-366.

[9] YAREMA KJ, BERTOZZI CR. Characterizing glycosylation pathways[J]. Genome Biol, 2001, 2 (5) :REVIEWS0004.

[10] CHANG IJ, HE M, LAM CT. Congenital disorders of glycosylation[J]. Ann Transl Med, 2018, 6 (24) :477.

[11] van TOL W, WESSELS H, LEFEBER DJ. O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery[J]. Curr Opin Struct Biol, 2019, 56:107-118.

[12] CYLWIK B, NAKLICKI M, CHROSTEK L, et al. Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation[J]. Acta Biochim Pol, 2013, 60 (2) :151-161.

[13] CYLWIK B, LIPARTOWSKA K, CHROSTEK L, et al. Congenital disorders of glycosylation. Part II. Defects of protein Oglycosylation[J]. Acta Biochim Pol, 2013, 60 (3) :361-368.

[14] THIEL C, KRNER C. Mouse models for congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2011, 34 (4) :879-889.

[15] STANLEY P. What have we learned from glycosyltransferase knockouts in mice?[J]. J Mol Biol, 2016, 428 (16) :3166-3182.

[16] WOODS AG, WOODS CW, SNOW TM. Congenital disorders of glycosylation[J]. Adv Neonatal Care, 2012, 12 (2) :90-95.

[17] THEODORE M, MORAVA E. Congenital disorders of glycosylation:Sweet news[J]. Curr Opin Pediatr, 2011, 23 (6) :581-587.

[18] RYMEN D, JAEKEN J. Skin manifestations in CDG[J]. J Inherit Metab Dis, 2014, 37 (5) :699-708.

[19] GORETA SS, DABELIC S, DUMIC J. Insights into complexity of congenital disorders of glycosylation[J]. Biochem Med (Zagreb) , 2012, 22 (2) :156-170.

[20] STURIALE L, BARONE R, GAROZZO D. The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2011, 34 (4) :891-899.

[21] WADA Y. Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation[J]. Glycoconj J, 2016, 33 (3) :297-307.

[22] ABU BAKAR N, LEFEBER DJ, van SCHERPENZEEL M. Clinical glycomics for the diagnosis of congenital disorders of glycosylation[J]. J Inherit Metab Dis, 2018, 41 (3) :499-513.

[23] BRASIL S, PASCOAL C, FRANCISCO R, et al. CDG therapies:From bench to bedside[J]. Int J Mol Sci, 2018, 19 (5) . pii:E1304.

[24] WITTERS P, CASSIMAN D, MORAVA E. Nutritional therapies in congenital disorders of glycosylation (CDG) [J]. Nutrients, 2017, 9 (11) . pii:E1222.

[25] THIEL C, KRNER C. Therapies and therapeutic approaches in congenital disorders of glycosylation[J]. Glycoconj J, 2013, 30 (1) :77-84.

[26] MARQUES-DA-SILVA D, DOS REIS FERREIRA V, MONTICELLI M, et al. Liver involvement in congenital disorders of glycosylation (CDG) . A systematic review of the literature[J]. J Inherit Metab Dis, 2017, 40 (2) :195-207.

[27] EKLUND EA, FREEZE HH. Congenital disorders of glycosylation and their effects on the liver[M]//MURRAY K, LARSON A. Fibrocystic Diseases of the Liver. USA:Humana Press.

[28] ROCK N, MCLIN V. Liver involvement in children with ciliopathies[J]. Clin Res Hepatol Gastroenterol, 2014, 38 (4) :407-414.

[29] JANSSEN MJ, WAANDERS E, WOUDENBERG J, et al. Congenital disorders of glycosylation in hepatology:The example of polycystic liver disease[J]. J Hepatol, 2010, 52 (3) :432-440.

[30] HLSMEIER AJ, TOBLER M, BURDA P, et al. Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease[J]. Sci Rep, 2016, 6:33927.

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