CDG: A Community of Hope! This week's guest: Barbara Vulso

💚CDG: A Community of HOPE!💚

Starring today in our #CDGAwareness campaign is Barbara Vulso 👩‍🎤:
-> A loving CDG Mom and fierce advocate who has repeatdly put her powerful voice to the service of the #CDGCommunity 👊<-
Her journey, her strength and courage are so inspirational!

She gives us HOPE!💚
#CDGCommunity #CDGDiversity #RareNotAlone
Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.

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New possible therapeutic strategy for PMM2-CDG

Mechanism of action of proteostasis activators


The research group U746 CIBERER from Madrid led by Dr. Belén Pérez just published very promising results of aa possible therapeutics strategy for PMM2-CDG. Even though this is the most frequent Congenital Disorders of Glycosylation (CDG) type affecting about 1000 people worldwide, there is still no treatment for this condition. 

PMM2-CDG is caused by a genetic defect in the phosphomannomutase 2 (PMM2) protein that causes loss of function of this protein, responsible for several and diverse clinical presentations. The main reason for this lack of function is the incorrect folding when the protein is produced.

Dr. Bélen's team evaluated the effect of proteostasis regulators in the stability and activity of several variants of PMM2 and showed their potential to rescue the PMM2 defect. This study, published in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, showed that treatment of cellular models with celastrol, one of the molecules under study, increased both the quantity of protein and its activity. This was accompanied by an increase in the levels of protein and gene expression of Heat Shock Proteins (Hsps). In fact, the Hsp90 seems to be the main responsible behind PMM2 stabilization.

This proof of concept is a very exciting development for the CDG community as it demonstrate the potential of proteostasis regulators to treat PMM2-CDG by stabilizing the PMM2 protein.



Proteostasis regulators as potential rescuers of PMM2 activity. A.Vilas, P.Yuste-Checa, D.Gallego, L.R.Desviat, M.Ugarte, C.Pérez-Cerda, A.Gámez, B.Pérez. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. doi: 10.1016/j.bbadis.2020.165777

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

A new addition to the  CDG family - GALNT2-CDG.

Many congratulations to Dr Andrew Edmondson and to his team for this great international collaborative study describing novel GALNT2-CDG.

We are very pround to be part of an innovative effort to spread knowledge and awareness of this new CDG!

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