Statins, drugs to lower "

These are the results of experiments on mice, which are reported in the journal Nature Neuroscience..

Noonan syndrome is a rare hereditary disease characterized by an unusual appearance (webbed neck, short stature, wide-set eyes) and heart defects..

Approximately half of patients have impaired intelligence and learning ability.

Noonan syndrome occurs in 1 in 1000-2500 children. There is no cure.

A new study by researchers at the University of California, Los Angeles (UCLA) not only helped to better understand the mechanism of the disease, but also offered the first valuable therapeutic option..

Several genetic defects are associated with Noonan syndrome, but a defect in one gene, which is responsible for the synthesis of the Ras protein regulator, causes half of all cases of the disease..

American researchers have discovered that a mutated gene in Noonan syndrome leads to hyperactivity of the Ras protein. Since Ras regulates the connections between brain cells, this violation immediately affects the “communication” of neurons and the formation of nerve connections.. As a result, a person cannot learn.

Ras hyperactivity prevents the brain from learning new things.

“The act of learning consists in a chain of physical changes in the brain that are very similar to writing. Ras protein hyperactivity disrupts the balance between turning on and off signals in the brain. This interrupts the delicate process of neuronal communication needed to record learned information,” explains Dr. Alcino Silva of the UCLA David Geffen School of Medicine..

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A few facts about Noonan Syndrome:.

• In some patients with Noonan syndrome, treatment with growth hormone helps to overcome the short stature characteristic of this disease.

•Other physical signs include: oddly shaped low-lying ears, small penis, underdeveloped testicles, deformed chest, webbed neck.

• Noonan syndrome is an autosomal dominant disorder. If only one parent is a carrier of the defective gene, then he can pass the disease on to his children..

In an animal model, genetically modified mice with Noonan syndrome, Dr. Silva's staff tried to influence cognitive impairment.. In his previous work, Silva used lovastatin to treat mice with neurofibromatosis type 1 (a disease also associated with Ras).. This led scientists to the idea of \u200b\u200busing lovastatin for Noonan syndrome..

Silva explains his motives: “With Noonan syndrome, the ability of the brain to create the connections necessary to remember new information is impaired.. Statins work at the root of the problem, reversing the development of intellectual disabilities. They enable the brain to physically record information.”.

Researchers use mazes and objects to test rodents' ability to learn. It turned out that during treatment with lovastatin, the activity of the Ras protein decreases, and the ability to navigate in labyrinths and recognize objects increases significantly..

Dr. Silva says they were 'shocked' by the improvement in cognitive function in a genetic disease that is considered incurable and is, in fact, a death sentence. Scientists are going to start lovastatin therapy in utero and see how effective it will be.

The scientists also plan to prepare for a clinical trial of lovastatin in patients with Noonan syndrome..

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