Link between missing DNA, birth defects confirmed

Link between missing DNA, birth defects confirmed

The genetic basis for a particular human syndrome that involves cleft palate, epilepsy and respiratory difficulties has been identified by researchers. Better understanding of these genes could help guide treatments for related conditions. “Epilepsy and cleft palate affect tens of thousands of children in the U.S. alone each year,” authors said, “and respiratory failure is a particular problem in premature and low birth weight babies. Finding the causative genes for these conditions could have some very clinically important implications.”

via Top Health News — ScienceDaily:

In 2010, scientists in Italy reported that a woman and her daughter showed a puzzling array of disabilities, including epilepsy and cleft palate. The mother had previously lost a 15-day-old son to respiratory failure, and the research team noted that the mother and daughter were missing a large chunk of DNA on their X chromosome. But the researchers were unable to definitively show that the problems were tied to that genetic deletion.Now a team from the University of Pennsylvania and The Children’s Hospital of Philadelphia has confirmed that those patients’ ailments resulted from the genetic anomaly. Creating mice that lacked the same region of DNA, the Penn and CHOP researchers showed that these animals suffered the same problems that afflicted the mother, daughter and son — cleft palate, epilepsy and respiratory difficulties, a condition called human Xq22.1 deletion syndrome. And, by clarifying the syndrome’s genetic basis, the researchers have laid the foundation for identifying the underlying molecular mechanism of these troubles and potentially treating them at their biological root.”This study has demonstrated that deleting this region in mice causes them to respond like humans with the same deletion,” said P. Jeremy Wang, senior author on the study and professor in the Penn School of Veterinary Medicine’s Department of Animal Biology. “Now that we have a mouse model, we can dissect and try to genetically pinpoint which genes are responsible.”Wang co-led the study with his postdoctoral researcher Jian Zhou. Additional coauthors included Penn Vet’s N. Adrian Leu and CHOP’s Ethan Goldberg, Lei Zhou and Douglas Coulter.The study appears in the journal Human Molecular Genetics.To investigate the effects of missing this portion of DNA, more than 1 million base pairs long, the Penn team crossed existing mice that had particular deletions in their DNA to create a mouse that lacked the entire stretch that the human patients were missing. They quickly observed that all male mice died at birth due to respiratory failure. …

For more info: Link between missing DNA, birth defects confirmed

Top Health News — ScienceDaily

Link between missing DNA, birth defects confirmed

Utilizzando il sito, accetti l'utilizzo dei cookie da parte nostra. maggiori informazioni

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close