University of Iowa researchers and collaborators have identified new genetic mutations that likely cause the common form of cleft lip and palate
The results could eventually help clinicians predict a family's risk of having more children with the condition. The findings appear in the week of March 5 online Early Edition of the Proceedings of the National Academy of Sciences.
Cleft lip and palate, found in nearly one of every 700 live births worldwide, occurs when tissues that normally form the lip and palate fail to join early in fetal life. The investigation focused on genes in the fibroblast growth factor (FGF) family, which function in a signaling pathway important in fetal face development, said Bridget Riley, a student in the UI Genetics Ph.D. Program and the study's primary author.
"The fibroblast growth factor signaling pathway is interesting because it is involved in many developmental processes, and we were especially interested in how it affects facial development. Prior to this study, the fibroblast growth factors had been looked at in syndromic forms of clefting but had not been examined in non-syndromic forms," said Riley, whose research team is based in the lab of Jeff Murray, M.D., a professor with multiple UI appointments and a study co-author.
The common form of cleft lip and palate is also known as non-syndromic, as it occurs in isolation and not in association with any known syndrome. The team compared the DNA from 184 people from Iowa and the Philippines had non-syndromic cleft lip and palate with DNA from people without the condition. Riley led the effort that found the mutations in FGF ligands and associated receptors.
Computer modeling of proteins, completed by Moosa Mohammadi, Ph.D., associate professor of pharmacology at New York University School of Medicine, indicated that each mutation would disrupt FGF signaling in a different way. The team will next test the mutant proteins to see if they affect protein function, Riley said.
The researchers estimate that abnormal FGF signaling may account for up to 5 percent of non-syndromic cleft lip and palate cases. Riley emphasized that the findings still need additional study but eventually could have important clinical value through the development of a diagnostic test. The findings could also provide information about FGF signaling in other craniofacial conditions.
"We're now better equipped to look at the factors that cause this birth defect and tackle improved ways to diagnose, treat and, we hope, eventually prevent the condition," said Murray, who is the Roy J. Carver Chair of Prenatal Health and professor of pediatrics in the UI Roy J. and Lucille A. Carver College of Medicine with joint appointments in pediatric dentistry in the College of Dentistry, biology in the College of Liberal Arts and Sciences, and epidemiology in the College of Public Health.
Riley initially presented study results in preliminary form at the plenary session of the annual meeting of the American Society of Human Genetics held Oct. 10 in New Orleans.
Becky Soglin | EurekAlert!
Mass spectrometry sheds new light on thallium poisoning cold case
14.12.2018 | University of Maryland
Protein involved in nematode stress response identified
14.12.2018 | University of Illinois College of Agricultural, Consumer and Environmental Sciences
The more objects we make "smart," from watches to entire buildings, the greater the need for these devices to store and retrieve massive amounts of data quickly without consuming too much power.
Millions of new memory cells could be part of a computer chip and provide that speed and energy savings, thanks to the discovery of a previously unobserved...
What if, instead of turning up the thermostat, you could warm up with high-tech, flexible patches sewn into your clothes - while significantly reducing your...
A widely used diabetes medication combined with an antihypertensive drug specifically inhibits tumor growth – this was discovered by researchers from the University of Basel’s Biozentrum two years ago. In a follow-up study, recently published in “Cell Reports”, the scientists report that this drug cocktail induces cancer cell death by switching off their energy supply.
The widely used anti-diabetes drug metformin not only reduces blood sugar but also has an anti-cancer effect. However, the metformin dose commonly used in the...
A research team from the University of Zurich has developed a new drone that can retract its propeller arms in flight and make itself small to fit through narrow gaps and holes. This is particularly useful when searching for victims of natural disasters.
Inspecting a damaged building after an earthquake or during a fire is exactly the kind of job that human rescuers would like drones to do for them. A flying...
Over the last decade, there has been much excitement about the discovery, recognised by the Nobel Prize in Physics only two years ago, that there are two types...
12.12.2018 | Event News
10.12.2018 | Event News
06.12.2018 | Event News
14.12.2018 | Power and Electrical Engineering
14.12.2018 | Physics and Astronomy
14.12.2018 | Physics and Astronomy