DYSTROGLYCANOPATHIES: GENETIC BASES OF MUSCULAR DYSTROPHIES DUE TO ALTERATION IN THE O-GLYCOSYLATION OF α-DYSTROGLYCAN

CUBILLA M.A.; PAPAZOGLU MG; ASTEGGIANO C. G.

Journal of Inborn Errors of Metabolism and Screening

SciELO

Año: 2023

Congenital muscular dystrophies (CMDs) are inherited progressive and heterogeneous muscle disorders. A group of CMDs is Dystroglycanopathies, also called α-dystroglycanopathies where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in varying severities of congenital muscular dystrophies and they present with progressive muscle weakness and loss of motor functions. This article first focuses on the CMDs, and 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, the phenotypes that can result in order to finally address current therapeutics for these diseases with the aim of increasing current knowledge.