Navigation Links
Gene mutation discovery sparks hope for effective endometriosis screening
Date:2/6/2012

Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition affecting millions of women that is marked by chronic pelvic pain and infertility. The researchers' discovery of a new gene mutation provides hope for new screening methods.

Published in the Feb. 3 early online issue of EMBO Molecular Medicine, the study explored an inherited mutation located in part of the KRAS gene, which leads to abnormal endometrial growth and endometrial risk. In endometriosis, uterine tissue grows in other parts of the body, such as the abdominal cavity, ovaries, vagina, and cervix. The condition is often hereditary and is found in 5%-15% of women of reproductive age, affecting over 70 million women worldwide.

Although the disorder has been studied for many years, its exact cause and how it develops remained unclear. It was previously shown that activating the KRAS gene caused mice to develop endometriosis. However, no mutations in this gene have been identified in women with endometriosis.

Led by senior author Hugh S. Taylor, M.D., professor and chief of the Division of Reproductive Endocrinology and Infertility in the Department of Obstetrics, Gynecology & Reproductive Sciences, the authors studied 132 women with endometriosis and evaluated them for a newly identified mutation in the region of the KRAS gene responsible for regulation. This mutation was previously linked to an increased risk of lung and ovarian cancer by study co-author Joanne Weidhaas, M.D., assistant professor of therapeutic radiology.

"We found that 31% of the women with endometriosis in the study carried this mutation, compared to only 5.8% of the general population," said Taylor. "The presence of this mutation was also linked to higher KRAS protein levels and associated with an increased capacity for these cells to spread. It also may explain the higher risk of ovarian cancer in women who have had endometriosis."

The Yale team is the first to identify a cause of this common and previously little understood disease. "This mutation potentially represents a new therapeutic target for endometriosis as well as a basis of potential screening methods to determine who is at risk for developing endometriosis," said Taylor.


'/>"/>
Contact: Karen N. Peart
karen.peart@yale.edu
203-432-1326
Yale University
Source:Eurekalert  

Related medicine news :

1. Cancer sequencing initiative discovers mutations tied to aggressive childhood brain tumors
2. Mutations in 2 Genes Linked to Rare Autism-Related Disorder
3. Gene Mutations May Boost Ovarian Cancer Survival: Study
4. Women with certain type of ovarian cancer and BRCA gene mutation have improved survival at 5 years
5. UNC scientists collaborate to find first major genetic mutation associated with hereditary prostate cancer risk
6. Gene Mutation Linked to Chemo-Resistant Colon Cancer
7. Gene Mutations Linked to Thyroid Cancer Risk: Study
8. Gene Mutation May Be Key to Familial Pancreatic Cancer
9. Research Sheds Light on Gene Mutations Role in Rare Tumors
10. Massive DNA search uncovers new mutations driving blood cancer
11. Gene Mutation Helps Clear Fats From Blood, Study Finds
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene mutation discovery sparks hope for effective endometriosis screening
(Date:4/29/2016)... ... April 30, 2016 , ... World Patent Marketing ... Up Springboard, an automotive invention that improves the storage features of a pick ... billion," says Scott Cooper, CEO and Creative Director of World Patent Marketing. "Over ...
(Date:4/29/2016)... ... April 29, 2016 , ... Since launching its annual ... foundation serving the footwear industry, has broken all previous participation records in its ... across 23 states during the months of April and May, the 2016 Footwear ...
(Date:4/29/2016)... ... April 29, 2016 , ... Our bodies are bombarded daily ... confront and deal with these stressors is to adopt a more healthful diet, but ... you. Risa Groux, a certified Holistic Nutritionist and the creator of the Newport Beach ...
(Date:4/29/2016)... CA (PRWEB) , ... April 29, 2016 , ... ... advocating optimistic healthcare awareness and author of best seller "LOVE, MEDICINE and MIRACLES") ... Radio Monday, May 2, 2016 and podcasted thereafter . Dr. Bernie Siegel, ...
(Date:4/29/2016)... ... April 29, 2016 , ... Coast Dental Fort Stewart is celebrating ... new location in the Exchange Furniture Mall at 112 Vilseck Road in Fort Stewart. ... Smart TV. Plus attendees will have the opportunity to meet general dentists Thomas Richards, ...
Breaking Medicine News(10 mins):
(Date:4/27/2016)... April 27, 2016 ... the  "Global Anesthesia Disposables Market 2016-2020"  report ... ) ,The global anesthesia disposables market ... of 4.03% during the period 2016-2020.  ... threat to patients, safety. Organizations like the ...
(Date:4/27/2016)... 2016 The global  gamma ... billion by 2022, according to a new report ... towards a healthy lifestyle is expected to drive ...      (Logo: http://photos.prnewswire.com/prnh/20150105/723757 ) , ... health treatment expenditure has urged consumers to switch ...
(Date:4/26/2016)... April 26, 2016 Hill-Rom Holdings, Inc. (NYSE: ... presentation at the Deutsche Bank 41 st Annual Health ... EDT. You are invited to listen to the ... or access it directly at http://edge.media-server.com/m/p/mr4uxgas . A recorded ... conclusion of the live event and accessible at the links ...
Breaking Medicine Technology: