University of Utah researchers have identified a region of the human genome that may contribute to the development of pelvic floor disorders such as pelvic organ prolapse and stress urinary incontinence, according to a study published this week in the American Journal of Human Genetics.
Kristina Allen-Brady, Ph.D., and colleagues at the University of Utah School of Medicine analyzed the DNA of 70 women from 32 families with at least two cases of pelvic floor disorders (PFD) and found significant evidence for a gene that predisposes to PFD on chromosome 9.
"PFDs are a major public health concern for women of all ages," says Allen-Brady, research assistant professor of genetic epidemiology in biomedical informatics and lead author of the study. "Previous research has found that women with urinary incontinence are more likely to have family members with incontinence, but the genetic factors that predispose to PFD are not well understood."
An estimated one-third of all U.S. women are affected by some type of PFD, such as pelvic organ prolapse (POP) or urinary incontinence, during her lifetime. The pelvic floor refers to the network of muscles, ligaments, and connective tissues that keeps all of a woman's pelvic organs in place. PFDs occur when these muscles and tissues weaken or are injured. One in nine women will undergo surgery for PFD, and one-third of these women will require repeated surgeries.
Risk factors such as childbirth, increased age, smoking, and obesity may contribute to PFD, but they do not fully explain the development of these disorders. To better understand the genetics of PFD, Allen-Brady and her colleagues identified 32 families which included at least two closely-related female relatives affected by POP. In POP, the uterus, bladder, or other pelvic organ drops down and protrudes abnormally because supporting tissues are weakened.
The researchers studied DNA from a total of 70 women who received treatment, usually surgery, for moderate-to-severe POP. Genetic analysis of this DNA showed significant evidence that genes located in a region of the genome called chromosome 9q21 may be inherited together in related women who have POP.
"This is the largest collection of families with POP that has been reported to date," says Allen-Brady. "Although it is premature to suggest that all PFDs have a common genetic predisposition, our study shows significant evidence that the chromosome 9q21 region may be linked to the development of PFD in families where multiple women are affected."
The researchers are in the process of collecting and analyzing DNA from other families that seem to be at high risk for PFDs in order to strengthen their conclusions. Although PFDs are likely a disease caused by both genetic and environmental factors, further evidence that the chromosome 9q21 region is linked to PFD can direct efforts at narrowing down and identifying a gene that is responsible for disease development.
Confirmation of genetic susceptibility could provide insight into the underlying disease process of PFD and potential ways to prevent this common condition.
Allen-Brady's co-authors on this study were Lisa A. Cannon-Albright, Ph.D., senior author and professor of biomedical informatics; Peggy A. Norton, M.D., professor of obstetrics and gynecology and chief of urognyecology; and James M. Farnham, biostatistician, and Craig Teerlink, doctoral student, both of the Department of Biomedical Informatics.
The project was funded by the Eunice Kennedy Shriver National Institute for Child Health and Human Development.
Phil Sahm | EurekAlert!
Colorectal cancer risk factors decrypted
13.07.2018 | Max-Planck-Institut für Stoffwechselforschung
Algae Have Land Genes
13.07.2018 | Julius-Maximilians-Universität Würzburg
For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...
For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.
Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...
Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...
Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....
Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.
Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...
13.07.2018 | Event News
12.07.2018 | Event News
03.07.2018 | Event News
13.07.2018 | Event News
13.07.2018 | Materials Sciences
13.07.2018 | Life Sciences