Researchers have identified the genetic origin of a rare human syndrome that causes cleft palate, respiratory difficulties and epilepsy.
The condition was discovered in 2010, when scientists in Italy reported that a woman and her daughter, both showing the same array of disabilities, were missing the same series of genes from their X chromosomes.
On that occasion, however, the researchers were unable to prove the patients’ symptoms were related to the genetic anomaly.
Now, a team from the University of Pennsylvania and the Children’s Hospital of Philadelphia has confirmed the missing region of DNA is responsible for the condition, which is now being called human Xq22.1 deletion syndrome.
The scientists developed mice with the same genetic anomaly and found they showed the same problems as the mother and her daughter, including epilepsy.
According to their report, which was published in Human Molecular Genetics this month, the study has laid the foundation for further research into the underlying mechanism behind human Xq22.1 deletion syndrome.
This could in turn lead to the development of treatment pathways to target the biological root of the condition.
P Jeremy Wang, senior author and professor in the Penn School of Veterinary Medicine’s Department of Animal Biology, commented: “This study has demonstrated that deleting this region in mice causes them to respond like humans with the same deletion.
“Now that we have a mouse model, we can dissect and try to genetically pinpoint which genes are responsible.”
The condition appears to have a more pronounced effect on males than females, with the male mice in the University of Pennsylvania study all dying at birth as a result of respiratory failure. This is consistent with the 2010 findings as the woman had previously lost a 15-day-old son to respiratory problems.
Professor Wang explained this is because males and females normally have an equal dosage of genetic material from X chromosomes, but in females, one of the chromosomes’ expression is ‘silenced’ at random.
“In this case, if more female cells silence the X chromosome that has the deletion, the effects of the syndrome won’t be as severe,” he said.
Posted by Steve Long
https://www.epilepsyresearch.org.uk/researchers-determine-genetic-origin-of-epilepsy-syndrome/
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