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 visible embryos.
They learnt that the previously unknown gene TMEM216 was known to trigger Meckel-Gruber and Joubert syndromes in subjects.
Meckel-Gruber syndrome is rare genetic disorder characterized by renal cystic dysplasia (abnormality of development) and hepatic (liver) developmental defects.
Joubert syndrome is a genetic disorder affecting the area of the brain that controls balance and coordination.
The two syndromes are part of a family of disorders called ‘ciliopathies’. It is known so because the cilia, or cell’s finger-like antennae, do not function in the manner they should and do not respond properly to signals.
The faulty TMEM216 gene hence was found to stop cells from making a protein that is needed for signaling, stated the researchers.
They further added that this lack of communication could prevent the neural tube from developing properly in maturing embryos, thus causing abnormalities in the brain.
“Affected embryos can also develop abnormalities in the eyes, extra fingers or toes, and multiple cysts in their kidneys,” The Hindu quoted Johnson as saying.
“These defects are often only picked up on a 12 week ultrasound scan,” added Johnson.
Researchers also found that Meckel-Gruber and Joubert syndromes were genetic disorders with recessive characteristics.
Hence, couples who both have a copy of the disease gene were found to be at risk of conceiving babies with similar birth defects, explained researchers.
The study appears in the journal Nature Genetics.