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Finding the cause of fetal abnormalities.

The genetic cause of an inherited condition that causes severe fetal abnormalities has been identified by an international group of researchers. The work, co-led by the University of California-San Diego Institute for Genomic Medicine, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruher and Joubert syndromes to be identified beforehand through screening.

The researchers' findings--which show how the disease gene stops cells' finger-like antennae or "cilia" from detecting and relaying information--ultimately may lead to treatments for more common related disorders, such as spina bifida, retinal blindness, and polycystic kidney disease.

"By understanding the science behind this relatively rare condition, we can gain insight into other pediatric diseases that are far more frequent. Spina bifida, for example, is one of the most common birth defects, affecting one in every 1,000 newborns," indicates Joseph Gleeson, professor of neurosciences and pediatrics, who directed the research.

Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as ciliopathies--so-called because the cilia are not working as they should and do not respond to signals properly. This lack of communication can prevent growing embryos from developing a correct neural tube, which leads to abnormalities of the brain. Affected embryos also can develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys.

"These abnormalities are often observed in prenatal ultrasounds, but expectant parents want to have a sense of what their child will be like: will he or she learn to walk, talk, and see?" explains lead author Enza Maria Valente, a professor at the Mendel Institute in Rome. "This type of research can give us answers to these important questions."

The work identified a previously unknown gene (TMEM216) as a cause of Meckel-Gruber and Joubert syndromes. They also showed that the faulty TMEM216 gene stopped cells from making a protein that is needed for cilia signaling. Because Meckel-Gruber and Joubert syndromes are recessive genetic disorders, only couples who both have a copy of the disease gene are at risk of conceiving babies with these birth defects.

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Title Annotation:Genetics
Publication:USA Today (Magazine)
Geographic Code:1USA
Date:Feb 1, 2011
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