Untreated, most children with the disease die before adulthood.
Researchers first used DNA taken from urofacial patients in Antioquia, Colombia to do genetic mapping and identify the chromosomal region containing the suspect genes. Once they narrowed the search, Dr. Junfeng Pang, a postdoctoral fellow in the lab of MCG molecular geneticist Dr. Cong-Yi Wang, completed the painstaking task of screening the 20 genes in this chromosomal region in patients from Colombia, the United States and France, until they found one gene that was mutated in every patient. Pang subsequently cloned the gene.
"We had to look for sequence errors in patients that could result in functional changes or loss of function for the encoded protein," said Wang, a co-corresponding author. "Only animals with voiding functions have this particular gene which indicates it is very important for that function." When defective, the gene produces an equally defective protein that is critical to muscle function.
While the researchers still don't know exactly what Heparanase 2 does, its mutation in urofacial syndrome patients suggests its role in muscle control related to facial expression and voiding. The scientists anticipate publishing more findings soon about the gene's function and how the mutation causes urofacial syndrome.
They also hope the research will help those with incontinence unrelated to the syndrome. Risk factors include advanced age, childbirth, pelvic surgery and spinal cord injury.
Current incontinence treatment includes behavioral therapies such as bladder training, surgery to expand capacity or bypass the bladder, intermittent catheterizations to prevent urine refluxing into the kidneys as well as drugs to prevent involuntary contraction of bladder muscles.
Lee and her husband Ron Lee, a photographer, traveled to Antioquia more than a d
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Medical College of Georgia