AUGUSTA, Ga. Medical College of Georgia researchers have identified the culprit gene for a rare condition that turns smiles into grimaces and impedes bladder and bowel control.
Their finding provides new insight into urofacial syndrome as well as incontinence in general which affects some 20 percent of the general population.
"This paper really tells us and the scientific community is that this particular gene and its encoded proteins play a very important role in controlling facial and bladder muscle function," said Dr. Jin-Xiong She, director of the MCG Center 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."
Dr. She, a Georgia Research Alliance Eminent Scholar in Genomic Medicine, is a corresponding author on the study published in the American Journal of Human Genetics. The study details identification of the gene Heparanase 2 as a cause of urofacial syndrome, a genetic condition 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 feces and urine, which can leak back into the kidneys and destroy them, said Dr. Bobbilynn Hawkins-Lee, a urologist at MCG, director of urodynamics and female urology at the Charlie Norwood Veterans Affairs Medical Center 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
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Medical College of Georgia