Scientists from Ben-Gurion University of the Negev and Tel Aviv University have collaborated on a solution to the dangerous phenomenon of congenital central hypoventilation syndrome (CCHS) in young children, which causes them to stop breathing when they fall asleep, and potentially suffocate.
The neurological disorder occurs when the autonomic nervous system (ANS) safeguards to control breathing while asleep do not function correctly. The current solution is ventilatory support while sleeping – this can range from nasal cannula, which are inserted into the nose to supplement oxygen levels, to more serious intervention such as a tracheotomy.
Prof. Gad Vatine of BGU and TAU’s Dr. Avraham Ashkenazi were brought together by Yad LaNeshima, the Israeli CCHS charity, in an effort to find a cure for the disorder.
The syndrome, also known as Ondine’s Curse, affects around 1,200 people worldwide, the charity says.
The labs of the two researchers, specifically female PhD students Fatima Amer-Sarsour at TAU and Daniel Falik at BGU, discovered that a mutation in one of the nine proteins that cause various neural disorders was responsible for the disorder.
The mutation in PHOX2B stops the transfer of the ubiquitin protein to neuronal proteins in the nervous system, which in turn damages normal functioning such as automatic breathing while asleep.
Amer-Sarsour and Falik discovered that patient-specific stem cells could be used to correct the mutation in PHOX2B. They used easily accessible cells such as blood or skin cells, and manipulated them into becoming identical to embryonic stem cells.
“Using personalized, cutting-edge technologies, we have uncovered insights that can pave the way for significant advances in the disease therapeutics,” said Falik.
“I am thrilled with the progress we have made in identifying defective pathways in CCHS, as this opens up exciting research avenues to explore the development and function of the ANS,” said Amer-Sarsour.
Vatine and Ashkenazi also expressed their excitement about the potential of the discovery.
“Now that we know what goes wrong in the CCHS patient neurons, we can start developing modalities to fix it with the goal of promoting neuron survival that will allow better quality of life for the patients,” they said.
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