A recently discovered genetic condition caused by defective protein synthesis that causes developmental delays and learning difficulties could be treated with a fertilizer that was isolated from human sperm, scientists say.
University of Manchester researchers, with colleagues from the UK, France and the USA, identified rare mutations in a gene called EIF5A in 7 children with developmental delays and learning difficulties from, UK, French and US hospitals .
Their study, published today in Nature Communications, used yeast and zebrafish cells, to show that the disease could be treated with a nutrient called spermidine.
The supplement is relatively safe and has been shown to have potential benefits in a number of other human conditions and can be found in foods such as old cheese, mushrooms, soy products, legumes, corn and whole grains. .
The condition, which has not yet been named, can affect between one in a thousand or one in a million people – the exact number is uncertain.
Dr Siddharth Banka, Senior Clinical Lecturer at the University of Manchester who led the study, said: “This is an important finding which provides these patients with a correct diagnosis for the first time, as well as treatment that could be in time.
“We do not know how many people are suffering from this new anonymous condition, but we feel that more patients in the UK and around the world are waiting to be admitted. . ”
The study also shows that the human brain is dependent on proteins that are difficult for cells to synthesize.
Proteins are made in cells with the help of tiny devices, called ribosomes that bind different layers of 20 types of building blocks called ‘amino-acids’.
Amino-acids can be formulated into millions of potential compounds to make the various proteins our bodies need for healthy living.
Some amino acid compounds are more difficult for ribosomes to synthesize. Understanding how cells regulate the production of such a wide range of proteins is an important question for science.
EIF5A is known to help ribosomes make complex proteins and without them they cannot synthesize in the brain.
Dr Victor Faundes, a PhD student at the University of Manchester who was responsible for the discovery, said: “We were very interested in this discovery and wanted to understand how changes in this gene cause this disease. We thought that if we could identify the mechanism of the disease, we might be able to develop a cure for our patients. “
Drs Banka and Faundes along with colleagues from the University of Manchester, Professor Graham Pavitt and Dr Paul Kasher have shown that EIF5A genetic modification reduces the ability of ribosomes to produce complex proteins.
And that affected how cells grow in a petri dish, as well as head development in zebrafish.
Dr. said. Pavitt, who studies the biological basis of protein production in cells: “Think of a car with a faulty suspension. While the car can work well on straight, smooth roads, it needs to slow down on uneven surfaces. Similarly, the inactive ribosome of eIF5A is on a slow and bumpy journey to produce some difficult proteins. ”
Dr Kasher, who studies zebrafish for the understanding and treatment of human diseases, said: “Potential treatment for a genetic condition is rarely discovered at this early stage of life. lorg. ”
But he said: “More patients need to be identified and a lot more research needs to be done before patients can be treated.”
Dr Banka said: “Our work shows how useful it is for scientists with different experiences to collaborate. This discovery opens up new avenues for understanding the work of EIF5A in humans and we hope that one day we will be able to treat these patients. ”
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