Gene associated with cleft lips is identified.
Byline: Craig Thompson Chief Reporter firstname.lastname@example.org
LEADING North East scientists have identified an important gene associated with cleft lip and palate.
Experts from Newcastle University say the discovery brings them a step closer to understanding how this birth defect arises, as well as developing medical approaches to prevent the disfiguring condition.
Tyneside scientists worked with colleagues from the University of Bonn in Germany, and discovered variants near a gene called GREM1 significantly increase the risk for cleft lip and palate.
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, equating to about two babies a day in the UK.
Dr Heiko Peters, who works at Newcastle University's Institute of Genetic Medicine, is senior author of the research paper on the subject.
He said: "The findings reveal a link between GREM1 and specific clinical characteristics that arise in the formation of a cleft lip and palate.
"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.
"A cleft lip can occur with or without a cleft palate and the genetic factors that predispose to palate involvement are largely unknown."
Mum-of-five Joanne Brown knows first-hand the challenges faced by those with a cleft lip and palate.
The student nurse's daughter, Emily, seven, was born with the condition and has had to undergo three operations so far with more expected in the years ahead.
Emily has coped well with her condition but having a cleft lip and palate has affected her speech and confidence.
Joanne, 33, of West Rainton, County Durham, who is married to David, 45, a joiner, welcomes the research into the condition.
She said: "I found out at my 20 week pregnancy scan that Emily had a cleft lip and palate. I was very upset as I didn't know anything about the condition. "Speech is a huge problem for Emily and she is shy around other children. She never used to look in the mirror and it has taken time for her to be able to do this.
"It's so important that research is carried out as the condition is a lifelong problem for sufferers.
"This research is a significant step forward in understanding the condition. It would be phenomenal if, in the future, the chance of a cleft lip and palate occurring could be reduced."
Experts 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 indicate that it is not the loss of GREM1 function but rather its increased activity that causes the condition.
Dr Peters added: "These findings provide a framework for further analyses, broadening our understanding of the processes that regulate the face's shape."
Although not lifethreatening for patients with access to postnatal surgery, cleft lip and palate requires additional care by specialists, including ear, nose and throat experts, orthodontists and speech therapists.