Scientists have created a universal drug for the treatment of all rare diseases

An international group of scientists has established that one already approved drug can stabilize almost all mutated forms of a human protein, regardless of the mutation location. This concerns the vasopressin V2 receptor (V2R), which plays a key role in kidney function. Its disruptions cause a rare disease - nephrogenic diabetes insipidus, accompanied by severe thirst and excretion of large volumes of diluted urine.

As reported by BAKU.WS with reference to Oxu.Az, the study is published in the journal Nature Structural & Molecular Biology.

Scientists created more than seven thousand variants of the receptor in the laboratory, including all possible mutations, and tested the effect of the drug tolvaptan, used to treat other kidney diseases. The experiment showed that the drug restored the normal level of the receptor in 87% of destabilized mutations, including 60 of 69 actually recorded in patients.

"Mutations form a kind of 'plug': the receptor gets stuck inside the cell and does not reach its surface. Tolvaptan keeps the protein in a stable state long enough for the quality control system to let it pass," explained the lead author of the work, researcher at the Centre for Genomic Regulation in Barcelona, Dr. Taylor Mighell.

According to scientists, the discovery demonstrates a new approach: the drug can bind to the protein and stabilize it regardless of the mutation site. This could be a major step forward in treating rare diseases, most of which are caused by unique DNA changes and have long remained without effective therapy.

"If our results are confirmed for other members of the GPCR receptor family, this will significantly accelerate the development of new drugs. Then, instead of searching for individual molecules for each mutation, it will be possible to create universal drugs that stabilize the entire protein," noted Professor Ben Lehner, head of the group at the Centre for Genomic Regulation and the Sanger Institute.