New unknown childhood genetic disease discovered with its potential cure

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ANI |
Update:
Sep 30, 2021 9:50 PM STI

Washington [US], Sep 30 (ANI): Discovering a previously unknown genetic disease that affects children, researchers have also discovered a potential method to prevent the gene mutation by administering a drug during pregnancy.
Findings from researchers at the University of California San Diego School of Medicine and the Rady Children’s Institute for Genomic Medicine were published in the New England Journal of Medicine.
The work involved researchers in Egypt, India, the United Arab Emirates, Brazil and the United States.
“Although different doctors cared for these children, all of the children had the same symptoms and all had DNA mutations in the same gene,” said lead author Joseph G. Gleeson, MD, Professor Rady of neuroscience at UC San Diego School of Medicine. and director of neuroscience at the Rady Children’s Institute for Genomic Medicine.
The research team nicknamed the disease “Zaki syndrome” after co-author Maha S. Zaki, MD, PhD, of the National Research Center in Cairo, Egypt, who first discovered the disease. . Zaki syndrome affects the prenatal development of several organs in the body, including the eyes, brain, hands, kidneys, and heart. Children suffer from permanent disabilities. The condition appears to be rare, but future studies are needed to determine the prevalence.

“We have been puzzled by children with this disease for many years,” Gleeson said. “We had observed children all over the world with DNA mutations in the Wnt-less (WLS) gene, but we did not recognize that they all had the same disease until doctors compared them. clinical notes. We realized that we were dealing with a new syndrome that can be recognized by clinicians and potentially prevented. “
Co-author Bruno Reversade, PhD, director of research at the Agency for Science, Technology and Research (A * STAR) in Singapore, helped identify several families whose members suffer from Zaki syndrome and study potential therapeutic interventions.
“Although we have shown that it is possible to mimic WNT deficiency with dedicated drugs, the real challenge was to overcome, and possibly save, this congenital disease,” said Reversade.
Using whole genome sequencing, the researchers documented mutations in the WLS gene, which controls signaling levels for a hormone-like protein known as Wnt (pronounced wint). Wnt signaling is a highly conserved group of protein pathways involved in embryonic development.
Scientists generated stem cells and mouse models for Zaki syndrome and treated the disease with a drug called CHIR99021, which stimulates Wnt signaling. In each mouse model, they found that CHIR99021 increased Wnt signals and restored development. The mouse embryos developed missing body parts and the organs returned to normal growth.
“The results were very surprising as it was assumed that structural birth defects like Zaki syndrome could not be prevented with medication,” said lead author Guoliang Chai, PhD, former postdoctoral fellow at UC San Diego School of Medicine now at Capital Medical University. in Beijing, China. “We can see this drug, or similar drugs, possibly used to prevent birth defects, if babies can be diagnosed early enough.” (ANI)


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