Breakthrough in the Treatment of Rare Diabetes: One Drug Can Stabilize Hundreds of Mutations

A new drug can stabilize mutated forms of a receptor that lead to diseases

An international team of researchers has discovered that one already approved drug can stabilize nearly all mutated forms of a human protein, regardless of where the mutation occurred. This discovery pertains to the vasopressin V2 receptor (V2R), which is necessary for normal kidney function. Disruptions in its structure lead to a rare disease - nephrogenic diabetes insipidus, in which a person suffers from extreme thirst and produces liters of dilute urine. This was reported by 'Glavkom'.

The study published in the journal Nature Structural & Molecular Biology demonstrates a new approach to treatment. Scientists created seven thousand variants of the receptor in the lab, including all possible mutations, and tested how the drug tolvaptan affects them. This drug is already used for treating other kidney diseases.

The result was impressive: the drug restored normal receptor levels in 87% of destabilized mutations. It was also effective against 60 out of 69 real registered mutations in patients.

According to Dr. Taylor Mighell, the lead author of the article, mutations create a 'traffic jam' that prevents the receptor from reaching the cell surface. Tolvaptan keeps it in a stable form long enough for the protein to be passed by the quality control system.

Alternative Research in the Field of Neurology

Earlier, scientists from Stanford School of Medicine found that excessive activity in the thalamic nucleus - a part of the brain that filters sensory information, can cause autism. Suppressing this activity allowed reducing autism symptoms in mice.

Previously, U.S. President Donald Trump urged pregnant women to stop taking the painkiller 'Tylenol', which contains acetaminophen. According to the American leader, this supposedly leads to the occurrence of autism in their children.

The study showed that the new drug could be effective in treating nephrogenic diabetes insipidus caused by V2R receptor mutations. This discovery opens new possibilities for patients and allows for previously insurmountable problems in the field of kidney diseases to be viewed from a different perspective.