Reacción a "Drug identified as “near-universal” treatment for rare disease"

This is an important article because it provides results that could have significant therapeutic relevance. The study focuses on small “carabiner” or chaperone molecules that help improve protein folding conditioned by a mutation in a rare disease, in this case nephrogenic diabetes insipidus caused by pathogenic variants in the V2R gene. The study identifies a drug that improves folding regardless of the type of mutation, making it more “universal”.

The study and research are based on the hypothesis that the abnormal function of misfolded proteins can be recovered or improved, especially those caused by missense mutations (erroneous meaning: change of one amino acid for another). This field has been under investigation for some time. The biggest novelty is that the drug would be capable of acting on a significant number of mutations that cause this pathology. On the other hand, we are talking about the therapeutic strategy of drug repositioning, that is, the use of already approved drugs that are prescribed for specific disorders and that can be indicated for other rare genetic diseases.

The main limitation is that these molecules act on proteins carrying missense variants, which limits the possible pharmacological effect and therapeutic indication of these mutations. Genetic diseases are highly varied and have specific molecular pathologies. For some, a large number of mutations are missense, but for others this is not the case, which would reduce the scope of action of these drugs. Even so, it would be a major breakthrough to confirm that this drug or similar ones can have an effect on a wider variety of diseases with missense variants.