Navigation Links
Discovery in Male Mice Gives Hope in Providing Clues to Find Infertility in Men

Up to 15 percent of couples of childbearing age struggle with the heartache of infertility. Now there is the promise of new hope with Cornell// researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, the researchers say they can now look for similar mutations in the DNA of infertile men.

Up to 15 percent of couples of childbearing age struggle with the heartache of infertility. Now there is the promise of new hope with Cornell researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, the researchers say they can now look for similar mutations in the DNA of infertile men.

Up to 15 percent of couples of childbearing age struggle with the heartache of infertility. Now there is the promise of new hope with Cornell researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, the researchers say they can now look for similar mutations in the DNA of infertile men.

"If you consider infertility a disease, you can't study it like you would other diseases, because the affected people can't reproduce," said John Schimenti, director of Cornell's Center for Vertebrate Genomics and senior author of the paper published in the current issue of the Public Library of Science journal PLoS Biology. Laura Bannister, a research associate in Schimenti's laboratory, is the paper's lead author.

"Consequently, we know very little about the genetic causes of infertility in humans," said Schimenti, a Cornell professor of genetics.

The gene, called Dmc1, provides the code for a key protein involved in meiosis, the process that produces sperm and egg cells for reproduction. These sex cells contain only one set of chromosomes that combine during conception and create an embryonic cell with two chromosome sets, one from each parent.

The mutation leads to a change in an amino acid in Dmc1 that blocks meiosis in its tracks, preventing sperm production. The mutant allele (one version of the pair of genes we inherit from each parent) is dominant; females who carry it remain fertile but carry the defect and pass the mutation on to future generations.

However, female carriers show higher rates of abnormalities during meiosis, which can potentially cause chromosome imbalances and birth defects, the researchers discovered. In addition, the researchers found that female mice with the Dmc1 mutation are born with fewer egg cells and can run out of eggs prematurely -- resulting in early menopause (or "mousapause" as the researchers humorously refer to the condition).

To get their results, the researchers randomly induced mutations in the mouse genome and then looked for infertility in the resulting mice. They then analyzed the DNA of the sterile males and identified the allele that caused the infertility. While most studies on the genetics of fertility stem from analyses of mice that have had a custom gene "knockout," this is the first to reveal a dominant mutation that leads specifically to infertility in a mammal. The researchers believe this kind of dominant effect is closer to how real-life infertility occurs in humans.

"People have been sequencing genes in humans, including the Dmc1 gene, to try and associate changes in gene sequences with infertility," said Schimenti. "There have been occasional reports that in some patients, a sequence change in this or other meiosis genes might cause a dominant defect in function, but until now there has been no definitive proof."

Mouse model s, he said, will be critical in distinguishing between those DNA sequence changes that are benign in humans versus those that disrupt sperm or egg production. The researchers are engaged in a project to identify ultimately all the genes needed for fertility in mice and apply this information to the human situation.

Source: Generef.com
SRM/B
'"/>




Related medicine news :

1. Discovery of bone gene
2. New Discovery May Help Treat Infertility
3. New Discovery to Increase Survival of Breast cancer Patients
4. Discovery of World’s smallest laser
5. Discovery of a built-in fat sensor
6. OHSU Researchers Announce New Discovery
7. Discovery Of New Molecule Could Solve Cancer Spread Mystery
8. Discovery Of Human Skeletons Could Unfold Facts About By-Gone Ages
9. New Discovery Shows That Brain Could repair Itself After Stroke
10. New Sleep Gene Discovery Wakes Up Scientists
11. Discovery of Elevated Amyloid Peptide levels could lead to Alzheimer’s Preventio
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/26/2016)... ... June 27, 2016 , ... Quality metrics are proliferating in cancer care, ... remain in the eye of the beholder, according to experts who offered insights and ... Journal of Managed Care. For the full issue, click here . , For ...
(Date:6/26/2016)... ... , ... PawPaws brand pet supplements owned by Whole Health Supply ... health of felines. The formula is all-natural and is made from Chinese herbs that ... Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... issues and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the ... several important health care topics including advance care planning, healthcare costs and patient ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin Johnson has dedicated ... has implemented orthobiologic procedures as a method for treating his patients. The procedure ... doctors to perform the treatment. Orthobiologics are substances that orthopaedic surgeons use to ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... -- Research and Markets has announced the addition ... 2022" report to their offering. ... with kidney failure, it replaces the function of kidneys by ... and thus the treatment helps to keep the patient body,s ... Increasing number of ESRD patients & substantial healthcare ...
(Date:6/23/2016)... Research and Markets has announced ... Type (Organic Chemical (Sugar, Petrochemical, Glycerin), Inorganic Chemical), Functionality ... - Global Forecast to 2021" report to their ... global pharmaceutical excipients market is projected to reach USD ... in the forecast period 2016 to 2021. ...
(Date:6/23/2016)... 23, 2016 Roche (SIX: RO, ROG; OTCQX: ... its Elecsys BRAHMS PCT (procalcitonin) assay as a dedicated ... shock. With this clearance, Roche is the first IVD ... solution for sepsis risk assessment and management. ... and PCT levels in blood can aid clinicians in ...
Breaking Medicine Technology: