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How can you help our CDG community? It is easy! Share among your social media and other channels the information we make available within this section and website. This raises awareness, accelerates diagnosis, and secures better care and management for our CDG children and adults!

Our community is in a relentless pursuit of therapies! 

Pharmacological chaperones can also help patients living with other CDG, as long as the defective protein still has some (even if small) ability to work.

 

How can Pharmacological chaperones help people living with PMM2-CDG?

A library of chemical compounds was studied to check if any of them  could help the PMM2 protein function better. One compound named 1-(3-chlorophenyl)-3-3-bis(pyridine-2-yl)urea) was tested in a cellular model with good results. However, in high amounts, this compound was toxic to the cells. Now, the researchers are working to change the structure of the compound to make it better (non-toxic).

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Another option being studied is the βG16P compound, a special type of sugar. This sugar was able to improve the function of the PMM2 protein (both the normal and faulty protein) inside cells cultured in the lab. Continue reading about Protein misfolding diseases: Prospects of pharmacological treatment

The image below shows how the drug discovery using  pharmacological chaperones (PCs) for congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG) is done. The drug discovery process starts with the functional characterization of PMM2-CDG causing mutations identified in patients. Then an initial high-throughput screening of 10 000 compounds from a commercial library allows the selection of molecules that act as potential pharmacological chaperones (PCs) for the PMM2 protein; then the validation of these PCs in different systems, as well as by computational analysis (http://pasilla.health.unm.edu/tomcat/biocomp/smartsfilter), leads to the optimization of the selected hit-compound

Drug discovery PCs PMM2-CDG

Keep in mind, you are not alone. Though Congenital Disorders of Glycosylation (CDG) are categorized as “rare” there is an amazing community at your fingertips working day and night to improve the lives of many people living with CDG and their family members. We want you to know everything that is available about therapies in lay language, but we suggest you enter into it at your own pace and comfort level.

We are here to help
Should you need more details please do get in touch with our Team

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For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

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Authors

Vanessa Ferreira and Sandra Brasil (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).  Ines Santos, Tiago Martins, Madalena Raposo from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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CDG
Congenital Disorders of Glycosylation

Page modified at Monday, July 11, 2022 - 15:23