Faulty gene causes foetal abnormalities, find experts
Researchers from University of Leeds, England together with
colleagues in Paris, Rome, and San Diego established that a
defective gene TMEM216 is the cause of various foetal
deformities in infants. Defective TMEM216 or transmembrane
protein 216 was known to cause Meckel-Gruber and Joubert
syndromes in kids. The Hindu quoted lead researcher Colin A.
Johnson, professor, Leeds University as saying, “These findings
may ultimately lead to treatments for more common related
disorders, such as spina bifida and polycystic kidney disease.”
“Spina bifida, for example, is one of the most common birth
defects, affecting one in every 1,000 children,” added the
researcher. Researchers conducted the study on people having a
family history of Meckel-Gruber and Joubert syndromes. For the
study, researchers collected DNA samples from subjects’ skin
cells and from in vitro cells (cells grown in the lab).
Researchers also studied zebrafish, which is known to have
extremely vi