Gene Linked To Hereditary Incontinence Identified

[DailyDi]

[Thought this was interesting since I know we have some members with hereditary incontinence.]

Gene linked to hereditary incontinence identified

The culprit gene for a rare condition that turns smiles into grimaces and impedes bladder and bowel control has been identified by Medical College of Georgia researchers.

Buzz up!

The discovery provides new insight into urofacial syndrome as well as incontinence in general.

"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 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.

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. (ANI)

[babykeiff]

Mike,

When you posted this, I talked to a colleague about it. The condiution is extremely rare as, unlike what the documentation stated, both parents must have the disorder to enable them to pass it on to their offspring. It is one of the few rare genetic disorders that requires the negative of the gene to be passed on to the offspring for the offspring to generate it in positive form. It is a mathematical mutatation of HIV. The normal gene copy, that is made during cell division has not got the right information to cause this problem.

To quell some peoples worries, gender inherited incontinence, ( where a parent and their same gender offspring is incontinent AND/OR the gender offspring's child is incontinent ) is NOT caused by this. IE A mother Mary, her daughter Paula, and Paula's daughter Gillian. If Mary is incontinent, Paula AND/OR Gillian will be incontinent. It may skip a generation or lie dormant for many generations. Gender inherited incontinence is caused by genetic mutation similar to that of MS, and usually starts to effect the child during or at the start of puberty.

[Darkfinn]

Well... "Angela Bauer" should be happy.

[square_duck]

I'm trying to remember some of what I learned in Biology about inheriting certain genetic traits. It depends on weather it is a dominant or recessive gene. Based on Mendels experiments, a child would have a 1 in 4 chance of having a certain genetic trait or (possibly) disorderpassed along. Since this one gene trait is so rare, it would seem that it's recessive and depends on weather both parents have it, and it would be a dominant or active feature in their lives.

In Angela's case, her situation seems to be tied to gender, and passed along that side of her family, since both her and her younger sister are incontinent, as well as her mother and grandmother, regardless of the genetic make up of the male side of her family. Hers is an interesting case since the situation which causes her incontinence is literally passed along to ONLY females, and is a dominant trait, and kind of defies Mendals law or rules for genetic inheritance of certain traits.

Interesting reading regardless

qwack

[Angela Bauer]

Since my name has been mentioned in this topic about incontinence, I would like to set the record straight.

All of my maternal grandmother Vi's sisters started to lose their urinary control within weeks of reaching puberty. Because Vi moved to the USA as a baby, she only is sure her own mother had no bladder control. Her mother had sisters who were not discussed, so we have no idea if they were incontinent. All the daughters of Granny Vi's sisters have bladder disease. So do all of Vi's daughters, including my Mom Alice and her youngest sister Betsy. Betsy's daughter Carole and all three of my sisters are urinary incontinent.

With all respect for Gregor Mendel, there has been a whole lot of research since he passed away in 1884. Much of the subsequent genetic research expands on the writing of Mendel. Consequently much of modern genetics since about 1990 is considerably more complex. Try to imagine how an understanding of DNA would have influenced Mendel's thinking.

Much of the findings reported by Daily Di were first published about 2000. That was the same time as modern research in urology was starting to make important discoveries.

I well remember Granny and Mom talking about frustration that their own urologist was not interested in considering genetics. Unfortunately although the urologists treating us accept the concept of genetics playing a part in our urinary incontinence, such knowledge has not resulted in successful treatment.

At least the good news is that these days it is entirely possible to find qualified urologists who have training in managing urinary incontinence.

[aleyxsis]

is darkfinn picking on angela or happy for her ?? just asking

[Darkfinn]

It was a legitimate statement... I know her story. (How can one not)

I merely place her name in quotes because I know it is not her real name.

[aleyxsis]

good enough darkfinn like i said was just asking take care dude

[diapertime42]

I also find Angela's family history quite interesting too...

I know squat about genetics or medicine, but you would think

that with each new generation, where a different male's genes

contribute to that couples' children, that eventually the "Bad

Bladder Gene" would "Dilute out" and not be a problem anymore.

I compare that to a few people I know who had a long line of a

certain kind of cancer in their family tree. Then at a certain

point in the family history, that disease seemed to disappear.

Oh well, it's something to ponder!