The new research that the researcher at the National Research Center “Maha Zaki” worked on with a research team, was called “Zaki Syndrome”, after her because she discovered the condition for the first time, with researchers from India, the UAE, Brazil and the United States..
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The researchers examined global databases of 20,248 families with children with neurodevelopmental disorders characteristic of the syndrome, and found that nearly one-third of affected children in these families had skeletal birth defects or microcephaly..
Dr. Maha Zaki says that the first case that was discovered was from Egypt, where this new syndrome affects the embryonic function from 4 to 12 days in the beginning..
Zaki revealed in exclusive statements to “Sky News Arabia” that this syndrome affects the “WLS” gene. WLS”, adding: “This gene is responsible for the protein uint (WNT Protein)And its function is to give a signal for the formation of the fetus at the beginning“.
Zeki syndrome affects the development of many parts of the body before birth, including the eyes, brain, hands, kidneys, and heart, and children have lifelong disabilities..
Although the prevalence of this syndrome “appears to be rare”, the researchers stress the need for future studies to determine the extent of its prevalence.
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Zaki points out that the value of the discovery is not only in knowing one of the most important causes of fetal malformations, but in discovering a man-made drug that may lead to the treatment of these birth defects..
And she adds, “The team of researchers has come up with a drug that is given to embryos of experimental animals in the early stages of formation and suffering from this syndrome, and it has been proven that there is a problem in the vertebrae of experimental animals, and the absence of a tail.“.
She added, “The embryos of experimental animals after birth have the same shape, which is the small head, and the problem of vertebrae, which proves that this gene has a confirmed function.“.
She added, “The importance of the drug is that when it is administered to embryos of experimental animals from 4 days to 12 days of the formation stage, it was proven at birth that there were no side effects from the drug, and the embryos were free of disease by 78 percent.”“.
And about the availability of the property or not? She said that it has not yet been tested on humans, noting that this is the next step after medical approvals.
She explained: “In the future, the drug will be given to the fetus in the early stages of formation, and the extent of its effect on it will be discovered“.
Even though these children were cared for by different doctors, “all the children showed the same symptoms, and they had the same symptoms,” said Joseph Gleason, professor of neurology at the University of California, San Diego School of Medicine, and lead author of the study. All DNA mutations in the same gene“.
This children’s condition has been baffling for many years, says Gleason, “We have observed children all over the world with mutations in DNA in a gene called WLS, but we didn’t realize they all had the same disease, until doctors compared clinical observations“.
Using whole genome sequencing, the researchers documented mutations in the . gene WLS, which controls the signaling levels of a hormone-like protein known as . WntAt that time, researchers realized they were dealing with an entirely new syndrome.
The WLS gene is a central receptor and regulator of Wnt proteins, which play a role in embryonic development and homeostasis in nearly all animals.
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