Researchers achieve the possibility of developing a 'comprehensive remedy' to treat all rare diseases

In a recent scientific study, a guide, the first of its kind, was found about the possibility of developing something similar to the ‘comprehensive means’ to treat mutations that cause rare diseases. The study led by a team of the ‘Genome Organization Center’ in Spain focused on a future known as the future of the second type of vasopinin, which is one of the important membrane proteins in the human body, and it belongs to a large family receptors known as the receptors associated with protein and the fields of the cells, it is in the vicinity of the cells. located and is located on the surface of the cells for the activities of different roads and is located on the surface of the cells established for the activities of different roads and is located on the surface of the cells established for the area, and plays an important role in regulating the water balance in the body. The study, published by the Nature Structural & Molecular Biology, said that the function of the second type of vasopinin is directly linked to the hormone of vasopoine, which is secreted by the rear pituitary gland in response to the water shortage or the high concentration of salt in the blood, and when fasting is the future of the renal. Lead to the lead to the Pansi to the lead to the lead to the lead to the lead to the loam ‘aquaminin’ to the cell membrane which enables the absorption of water from the current urine in the kidney tubes and returns it into the blood, which helps the body to keep water and produce a concentrated urine. And when mutations occur in the genes of the second type of vasopinin, this important system is exactly disturbed. The mutations can change the shape or stability of the protein, which prevents it from reaching the cell surface or not enabling it to associate with the hormone; This causes the kidney failure to respond to Vasopsin, and thus the inability to concentrate urine. Rare diseases are the spread and effect of rare diseases: it lives between 300 and 400 million people around the world with a rare disease. There are more than 7,000 rare disease, and new diseases are constantly discovered. Between 70% to 90% of rare diseases begin in childhood. Characteristics of rare diseases: About 80% of rare diseases belong to genetic reasons. About 95% of these diseases have no recognized or effective treatment. Many of them are chronic, progressive and cause serious disabilities. Diagnosis of rare diseases: The correct diagnosis of rare diseases lasts an average of about 5 years. In some cases, the wrong diagnosis rates reach 40%, which delays the appropriate treatment. Many patients, especially adults, do not have a care coordinator that helps them manage their complicated needs. The societal and economic burden expands the burden for families and caregivers, causing great financial and psychological pressure. The lack of public awareness leads to social isolation, stigma and discrimination against those with rare diseases. In the study, the researchers relied on engineering 7,000 different copies of the future of the type 2, the type 2 in the laboratory, to cover almost all possible mutations. The imbalance in this general future prevents the reaction to the hormone of vasoboin, leading to a rare disease known as “false kidney diabetes”, or “resistance to vitopyin”, which affects one person in every 25 thousand people and loses the body’s ability to concentrate urine, causing serious thirst and the secretion of large amounts of urine. When the team tested Tolvabt, an oral treatment that has already been approved for other kidney cases, the drug showed a remarkable ability to restore the future to semi -normal levels in approximately 87% of the disease that causes mutations, including 60 out of 69 boom known to patients, and 835 out of 965 expected trees. “Within the cell, the future of that protein moves through a highly organized transport system, but the mutations cause blockage that prevents him from reaching the cell surface. Tolfabt works as a temporary pillar, giving adequate stability to pass the cell control,” Taylor Miguel said, the first author of the study. The research team has achieved in previous research that most of the mutations weaken the stability of the protein and made its structure more fragile, but the new study showed that Tolfabett does not depend on the mutation place in the protein sequence, but it works rather because it allows the right folded form to perform the cost of the non -stated form. The importance of these results is that it is the first practical proof that one drug can act as ‘semi -encompassing drug facilities’, that is, it proves the structure of protein and in most cases, regardless of the location of the surge, which is a possible shift in the methodology of medicine for the development of mutations and the small number of patients. Statistics indicate that about 300 million people around the world suffer from rare diseases, most of which are caused by DNA mutations. Although each disease affects a very small percentage separately, the large number of these diseases makes it a global health challenge. As between 40 and 60% of the rare pathogens affect the stability of protein, the efficiency of this approach opens the door for a faster and more efficient path to developing treatments.