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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.
What are pharmacological chaperones?
Pharmacological chaperones (PCs) are small molecules that can stabilize the shape and structure of a faulty protein. You can imagine them as crutches which will help the faulty protein work better. For more information, visit this website and here.
Pharmacological chaperones have ceased to be a niche category and have entered the clinical practice for some rare diseases caused primarily by protein instability.
Pharmacological chaperones cannot be used by all patients affected by a given genetic disease. They act by binding specifically unstable folded (or partially folded) mutant proteins. Hence they are not useful in all the cases, e.g., in which the protein is absent because the gene is affected by a deletion, a stop gain mutation, a splicing mutation, or a mutation occurring in the regulatory regions. Importantly, apart from pharmacological chaperones, different classes of small molecules can rescue proteins destabilized by mutations and increase their intracellular concentration (Continue reading here).
To better understand the role of pharmacological chaperones, watch this video:
