Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.

Abstract

Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. In this paper, we describe the O-glycosylation process and currently known congenital disorders of glycosylation associated with defects of protein O-glycosylation. This process takes place in the cis Golgi apparatus after N-glycosylation and folding of the proteins. The O-glycosylation is essential in the biosynthesis of mucins, the formation of proteoglycan core proteins and blood group proteins. Most common forms of O-glycans are the mucin-type glycans. There are more than 20 known disorders related to O-glycosylation disturbances. We review 8 of the following diseases linked to defects in the synthesis of O-xylosylglycans, O-N acetylgalactosaminylglycans, O-xylosyl/N-acetylglycans, O-mannosylglycans, and O-fucosylglycans: multiple exostoses, progeroid variant of Ehlers-Danlos syndrome, progeria, familial tumoral calcinosis, Schneckenbecken dysplasia, Walker-Warburg syndrome, spondylocostal dysostosis type 3, and Peter's plus syndrome. Causes of these diseases include gene mutations and deficiency of proteins (enzymes). Their diagnosis includes syndromic presentation, organ-specific expression and laboratory findings.

• Authors: Bogdan Cylwik, Karina Lipartowska, Lech Chrostek, Ewa Gruszewska
• Journal: Acta biochimica Polonica (Acta Biochim Pol) Vol. 60 Issue 3 Pg. 361-8 ( 2013) ISSN: 1734-154X [Electronic] Poland
• PMID: 24051442 (Publication Type: Journal Article, Review)

Chemical References

• Blood Group Antigens
• Glucans
• Mannans
• Mucins
• Xylans

Topics

• Blood Group Antigens (genetics, metabolism)
• Carbohydrate Sequence
• Congenital Disorders of Glycosylation (genetics, metabolism, pathology)
• Gene Expression Regulation
• Glucans (chemistry, metabolism)
• Glycosylation
• Golgi Apparatus (genetics, metabolism)
• Humans
• Mannans (chemistry, metabolism)
• Molecular Sequence Data
• Mucins (genetics, metabolism)
• Mutation
• Protein Folding
• Xylans (chemistry, metabolism)