Washington, June 14 (IANS) Researchers at the Medical College of Georgia (MCG) have identified a gene responsible for a rare condition that turns smiles into grimaces and impedes bladder and bowel control.
The findings provide new insight into urofacial syndrome (a rare inherited disorder characterised by an unusual face and abnormalities in organs involved with urination) as well as incontinence (inability to control bowel or urinary movements) in general which affects some 20 percent of the general population.
‘The paper tells us and the scientific community that this particular gene and its encoded proteins play a very important role in controlling facial and bladder muscle function,’ said Jin-Xiong She, director of the MCG Centre for Biotechnology and Genomic Medicine.
‘From this, we hope to develop studies that will benefit not only these patients but also those with the more general problem of incontinence or overactive bladder and constipation,’ added She, study co-author.
The study details identification of the gene Heparanase 2 as a cause of urofacial syndrome (also known as hydronephrosis), disproportionately affecting populations with common ancestry.
To pass along a genetic disorder, a child must get two copies — one from each parent — of the mutated gene. Rare disorders become more common in populations where relatives marry and/or have children together.
The face, bladder and bowel all require tight control of muscle contraction. Patients with urofacial syndrome leak faeces and urine, which can leak back into the kidneys and destroy them, said MCG urologist Bobbilynn Hawkins-Lee, director of urodynamics and study co-author.
Lack of bowel control causes constipation as well as leakage. Lack of facial control turns smiles into grimaces. ‘You can pick these babies out in a nursery because their facial muscles are inverted,’ Lee said. Older children typically give up trying to smile, opting for a more stoic look to help mask their condition.
Untreated, most children with the disease die before adulthood, said an MCG release.
These findings were presented in the American Journal of Human Genetics.
