London: Opening a new window for development of medical approaches to prevent cleft lip and palate, scientists have identified an important gene that is associated with the disfiguring condition.
Increased activity of a gene called GREM1 (Gremlin1) significantly ups the risk for cleft lip and palate, the findings showed.
"The findings reveal a link between GREM1 and specific clinical characteristics that arise in the formation of a cleft lip and palate,” said senior author of the study Heiko Peters from Newcastle University in Britain.
"This is very important in this research area as it helps to decipher the complex interplay between genes required for the different steps and in different tissues during lip and palate development,” Peters noted.
The findings were published in the journal PLoS Genetics.
A cleft is a gap in the upper lip, the roof of the mouth, or sometimes both. Each year, approximately 250,000 babies worldwide are born with a cleft, the study pointed out.
"A cleft lip can occur with or without a cleft palate and the genetic factors that predispose to palate involvement are largely unknown," Peters said.
The research team carried out analyses on genetic and clinical data from three large patient cohorts and identified a strong association between a region on chromosome 15 and cleft lip and palate.
They also carried out studies on mice to investigate where GREM1 is normally active in the development of the face and how alterations in the gene's activity may affect the lip and palate.
Results indicated that it is not the loss of GREM1 function but rather its increased activity that causes the condition.
"These findings provide a framework for further analyses of GREM1 in human cell systems and model organisms, broadening our understanding of the processes that regulate the face's shape," Peters noted.