A large-scale international study led by Tel Aviv University found that an experimental drug that received from theFDA The status of an orphan drug for future treatment of a rare developmental syndrome may also cure a variety of symptoms related to autism, mental retardation and Alzheimer’s.
Repair nerve cell function
The experimental drug (NAP), Was discovered in the laboratory of Prof. Ilana Gozs of the Department of Molecular Genetics of Man and Biochemistry at the Sackler School of Medicine.FDA Gave the experimental drug a special route for approval in the status of an orphan drug for a rare developmental syndrome, ADNP, Which damages the brain, muscles and digestive system. In the present study, a team of researchers led by Prof. Gozes found that the experimental drug may be effective in treating a wide range of symptoms of the syndrome. ADNP, Originating from a mutation in the gene ADNP Essential for brain development and protection of nerve cells in the brain.
“NAP Is actually a short section of protein ADNP proper. In the past we have found that treatment using NAP Corrects the function of human nerve cells with syndrome ADNPIn vitro in the laboratory. In the present study we sought to examine the efficacy of NAP To treat various aspects of the syndrome in a model with the most harmful mutation that allows observation of brain development and allows correction of behavioral problems. We tested its effect in animals suffering from the syndrome (mutation in(ADNP. To our amazement and joy we discovered that therapy through NAP “Normalizes the function of mice in most phenomena,” explains Prof. Gozes.
A study summarizing student Gideon Carmon’s doctoral dissertation also involved a team of researchers from Prof. Guzs’ laboratory: Dr. Shlomo Sargovich, Gal Hacohen-Kleiman, Inbar Ben-Horin-Hazak, Oksana Kapitansky, Alexandra Lubintseva and Dr. Eliezer Giladi. Dr. Moran Rubinstein, Prof. Noam Shomron and Guy Shapira from the Faculty of Medicine, and Dr. Masada Pasmanik-Shor from the George S. Wise Faculty of Life Sciences. Researchers from the Czech Republic, Greece, Germany, and Canada also participated. The article was published in the prestigious journal Biological Psychiatry.
Flooring and diagnosis of genetic mutations
The study examined a model of mice with the syndromeADNP, Using objective measurement methods to evaluate the behavior, electrical activity, and protein identification in the brain. The researchers found that the mice with the syndrome were characterized by a wide range of pathological symptoms that were manifested in postpartum mortality, slow development and abnormal gait mainly in females, as well as poor vocal communication.
Brain tests revealed additional findings: relatively small number of synapses – meeting points between nerve cells, impaired electrophysiological activity indicating low potential for normal brain stimulation, and protein precipitation Your In young mice, similar to those in the brains of elderly Alzheimer’s patients. Thankfully, the researchers found that treatment using NAP Normalizes the function of mice in most phenomena.
In addition, the researchers sought to identify in the blood of the model mice a significant biological marker of the syndrome ADNP, Which will make it possible to diagnose the serious illness and monitor the effectiveness of the treatment through a simple blood test. With the help of genetic flooring technologies they have detected a deviation from the norm as well as a correction by NAP In five proteins (at the level RNA Messenger), in the form characteristic of females only. These findings were consistent with changes found in previous studies in white blood cells in children with the syndrome ADNP. One of the markers discovered is FOXO3 – Protein plays an important role in the formation of synapses in the brain and healthy aging.
“The study examined the effect of a mutation in a gene ADNP On model mice in a wide variety of aspects, and we found extensive impairment in their physical and brain function, corresponding to autism symptoms, developmental delay, mental disability, and Alzheimer’s disease in humans. We also tested a potential cure for the disease – a short section called NAP From protein ADNP OK, and we found it to be effective against most symptoms in mice. “We hope and believe that this study is an important milestone in the development of a drug or drugs that will help children with autism resulting from genetic mutations, as well as Alzheimer’s patients,” concludes Prof. Gozes.
Ramot – the commercialization company of Tel Aviv University, has filed a number of patent applications protecting the technology and its application, and is raising money in collaboration with Professor Gozes for further clinical research. Levels are also in discussions about commercial collaboration with drug companies. “We are excited about the new discovery and believe it is a groundbreaking technology that will cure a variety of symptoms and disabilities in a wide range of orphan diseases.” Said the Primor Cohen Foundation, CEO of Ramot.
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