A study led by researchers at the Centre for Genomic Regulation (CRG) in Barcelona has revealed that a single, already licensed drug can stabilize nearly all mutated versions of a human protein, regardless of the mutation’s location. This groundbreaking research, published in Nature Structural & Molecular Biology, demonstrates that small molecule binding can effectively rescue destabilizing variants throughout a protein’s structure, potentially paving the way for new treatments targeting various rare diseases.
Rare genetic diseases, affecting approximately 300 million people globally, present significant challenges in drug development due to the unique mutations associated with each condition. The study’s findings suggest that the oral medication tolvaptan can restore receptor levels in up to 87% of destabilized mutations in the vasopressin V2 receptor (V2R), which is crucial for kidney function. This approach could revolutionize the development of therapies by focusing on stabilizing entire proteins rather than targeting specific mutations, thereby accelerating the drug development pipeline for genetic diseases.
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