Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan

Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in differ...

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Bibliographic Details
Published in:Journal of inborn errors of metabolism and screening 2023, Vol.11
Main Authors: Cubilla, M.A., Papazoglu, G.M., Asteggiano, C.G.
Format: Article
Language:English
Subjects:
Congenital muscular dystrophies (CMDs)
dystroglycanopathies
GENETICS & HEREDITY
glycosylation
muscle disorders
α-dystroglycan protein (αDG)
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Summary:Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in different severities of congenital muscular dystrophies and they present with progressive muscle weakness and loss of motor functions. This article first focuses on the CMDs, their classification according to the observed symptoms or the protein involved in the resulting phenotype. We then focus on dystroglycanopathies, the importance of its correct O-glycosylation of the α-dystroglycan given its important structural function, considering the enzymes involved in said glycosylation and the phenotypes that can result, to finally address current therapeutics for these diseases with the aim of increasing current knowledge.
ISSN:2326-4594
2326-4594
DOI:10.1590/2326-4594-jiems-2022-0005