Gene study offers hope of a new spina bifida treatment

SCIENTISTS studying genes from humans and zebrafish believe they may have identified a birth defect gene which could help them tackle spina bifida.

The research – reported in a professional journal today – indicates that the gene TMEM216 plays a role in two serious but rare disorders, Meckel-Gruber and Joubert syndromes. Both cause brain and eye defects as well as abnormal numbers of fingers and toes.

Researchers believe understanding how the gene functions may lead to new treatments for more common birth conditions such as spina bifida and polycystic kidney disease.

A mutation in TMEM216 was found to interfere with the way developing cells in the womb signal each other. A lack of communication can prevent the neural tube developing properly, leading to brain abnormalities.

Scientists identified the gene after analysing DNA donated by families with a history of the disorders. They also studied genes in patients' skin cells from patients, lab-grown cells grown in the laboratory, and zebrafish.

Only couples who both have a copy of the disease gene are at risk of conceiving babies with Meckel-Gruber and Joubert syndromes.

The conditions are most common in close-knit populations with few "outsider" marriages.

Study leader Professor Colin Johnson, of Leeds University, said: "By understanding the science behind this relatively rare condition, we can gain insight into other developmental conditions that are less serious but far more frequent. Spina bifida, for example, is one of the most common birth defects, affecting in one in every 1,000 children.

"Now that we have identified a gene that causes Meckel-Gruber syndrome and Joubert syndrome, the role of particular signalling pathways while the embryo is developing can also be more clearly understood."