Brown University biologists have found a new molecule in fruit flies that is key to the information exchange needed to build wings properly. They have also uncovered evidence that an analogous protein may exist in people and may be associated with problems such as cleft lip, or premature ovarian failure. As they work together to form body parts, cells in developing organisms communicate like workers at a construction site. The discovery of a new signaling molecule in flies by Brown University biologists not only helps explain how cells send many long-haul messages, but also provides new clues for researchers who study how human development goes awry, for instance in cases of cleft lip and palate. For all the diversity of life, animal cells employ only a small set of proteins to send those jobsite signals that coordinate construction.
A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease. Babies born with the disorder, known as Loeys-Dietz syndrome or Marfan syndrome type II, have cleft palates and other facial characteristics similar to babies born with other diseases - but also happen to suffer potentially fatal heart defects, making it critical for them to receive an accurate diagnosis right away. Researchers from USC found an abnormally high amount of a protein known as Transforming Growth Factor Beta (TGF-Î ) outside of cells - which may be revealed by a blood or tissue test - in patients with characteristic facial defects is a key indicator of Loeys-Dietz. "If we can screen patients for this, it can identify Loeys-Dietz syndrome and inform clinical practice, " said Yang Chai, director for the USC Center for Craniofacial Molecular Biology and corresponding author of the study.
New Mouse Model Could Lead To New Treatments And Prevention Strategies For Cleft Lip And Cleft Palate In Humans
Scientists at Weill Cornell Medical College used genetic methods to successfully repair cleft lips in mice embryos specially engineered for the study of cleft lip and cleft palate. The research breakthrough may show the way to prevent or treat the conditions in humans. Cleft lip and cleft palate are among the most common birth defects, with treatment requiring multiple cycles of surgery, speech therapy and orthodontics. To date, there have been very few pre-clinical methods that allow researchers to study the molecular causes of these malformations. In particular, there has been a lack of animal models that accurately reflect the contribution of multiple genes to these congenital deformities in humans. In a report in a recent issue of the journal Developmental Cell, Dr. Licia Selleri, associate professor of cell and developmental biology at Weill Cornell Medical College, and her co-authors report the first multigenic mouse model of cleft lip with or without cleft palate.
The overall quality of a pregnant woman's diet is linked with risk for two types of serious birth defects, a new study from the Stanford University School of Medicine has shown. In the study, women who ate better before and during pregnancy gave birth to fewer infants with malformations of the brain and spinal cord, or orofacial clefts, such as cleft lip and cleft palate. Prior research on diet and birth defects has generally addressed one nutrient at a time. For instance, the B vitamin folic acid has been shown to protect against brain or spinal cord malformations known as neural tube defects, which include anencephaly (a fatal defect in which the brain is lacking) and spina bifida (an opening in the spinal column). However, after fortification of the U.S. food supply with folic acid was implemented in 1998, these types of birth defects did not completely disappear.
Carter and Mason Osborne have a lot in common. Not only are they brothers who love to laugh, they also share one unique characteristic; they were born with forms of cleft lip and palate. Fortunately, the Osborne's have a team of nationally-recognized experts in the Cleft Lip and Palate Center at Nationwide Children's Hospital to help with their sons' overall treatment and care. While the odds of having a child born with cleft lip and palate are 1 in 700, the odds increase significantly for parents who already have a child with cleft lip and palate. Cleft lip and palate, a condition often believed to occur more frequently in developing countries, is the most common birth defect in the United States after congenital heart disease. Genetics plays an important role in the development of cleft lip and palate, as seen in the Osborne brothers, but environmental factors such as prenatal exposure to alcohol, cigarettes, illicit drugs, and some medications may play a role in some cases.