Faulty Gene Stops Cell ‘Antennae’ From Transmitting

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.

The work, co-led by geneticists at the UCSD Institute for Genomic Medicine, together with institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening.

The researchers' findings - which show how the disease gene stops cells' finger-like antennae or 'cilia' from detecting and relaying information - may ultimately lead to treatments for more common related disorders, such as spina bifida, retinal blindness and polycystic kidney disease. The paper will be published May 30 issue in Nature Genetics.

''By understanding the science behind this relatively rare condition, we can gain insight into other pediatric diseases that are far more frequent,'' said UCSD researcher Joseph Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego School of Medicine and Howard Hughes Medical Institute Investigator, who directed the research. ''Spina bifida, for example, is one of the most common birth defects, affecting one in every 1000 newborns.''

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 properly to signals.

This lack of communication can prevent growing embryos from developing a correct neural tube, which leads to abnormalities of the brain. Affected embryos can also develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys.