Featured Research

from universities, journals, and other organizations

Scientists Isolate Premature Ovarian Failure Gene

Date:
February 2, 2001
Source:
NIH/National Institute On Aging
Summary:
A genetic mutation appears to produce eyelid defects in newborns and trigger early onset of menopause decades later. The finding could help researchers decipher how genetic processes during fetal development can have immediate manifestations at birth and also lead to certain age-associated changes later in life.

A genetic mutation appears to produce eyelid defects in newborns and trigger early onset of menopause decades later. The finding could help researchers decipher how genetic processes during fetal development can have immediate manifestations at birth and also lead to certain age-associated changes later in life.

Related Articles


The newly identified gene, called FOXL2, is required for the normal eyelid development in newborns. In women, FOXL2 is also needed to form a full complement of eggs in the ovaries before birth. If it is mutated, babies may be born with a drooping eyelid condition called blepharophimosis, and certain women born with this condition may also experience premature menopause.

The discovery is the first to pinpoint a gene responsible for early onset of menopause, said David Schlessinger, Ph.D., chief of the NIA's Laboratory of Genetics in Baltimore. FOXL2 was isolated from a region of chromosome 3 that had been implicated in families with a history of blepharophimosis and premature ovarian failure. The gene was cloned by Italian scientists led by Giuseppe Pilia of the University of Cagliari, with the assistance of French researchers and NIA investigators.

The finding, published in the February 2001 issue of Nature Genetics, establishes blepharophimosis as a potential marker for early onset of menopause in some women, said Dr. Schlessinger, a coauthor of the study. The discovery also may shed light on certain aspects of aging, which may be driven by genetic processes that begin soon after conception.

"It's becoming increasingly clear that early events in embryonic and fetal life are important for what happens later during aging," Dr. Schlessinger said. "It was once thought that life was composed of hermetically sealed compartments. First, there was infancy, which was followed by young adulthood. Then, after development was complete and you were a mature adult, you started to age. Now it is clear that things don't work that way. Aging, like other biological processes, has genetic determinants that are initiated in utero."

Early onset of menopause, also known as premature ovarian failure, is a prime example of these genetic forces at work, Dr. Schlessinger said. During normal fetal development, eggs are formed in the ovaries. Before birth, the vast majority of these eggs are naturally destroyed because they are flawed or fail to flourish. But usually a woman is born with enough eggs to sustain fertility for several decades of her adult life.

Typically, menopause occurs in a woman's late 40s or early 50s. However, premature ovarian failure occurs in up to one percent of women before age 40. Radiation therapy, chemotherapy, and autoimmune disorders, in which antibodies damage the ovaries, can trigger premature ovarian failure. But up to 30 percent of women with premature ovarian failure have at least one female relative with the same condition, strongly suggesting many cases might be inherited. However, before the discovery of FOXL2, the gene or genes responsible for this condition were unknown.

FOXL2 is a transcription factor, meaning it stimulates other genes to turn "on" or "off" in the eyelids and ovaries at appropriate times. A mutation in one of the two copies of this gene disrupts this process, so genes that would normally be activated by FOXL2 remain dormant, inactive genes might be inappropriately activated, or both. As a consequence, affected women may be born with blepharophimosis and may have fewer egg follicles than necessary to sustain a normal reproductive lifespan.

"Although we are talking about an age-related condition, menopause, all of the critical events have occurred in fetal development that determine when menopause will occur," Dr. Schlessinger said. "If we understand more about how tissues are formed, we might be able to prolong the function of cells and even regenerate tissues that are worn out."

In the next phase of research, investigators will likely look for the underlying mechanisms that cause women with this genetic mutation to produce fewer eggs, Dr. Schlessinger said. The mutation, for instance, may arrest normal egg follicle development so that fewer of them form in the ovaries. It's also possible that egg follicles develop normally, but some action triggered by the mutant FOXL2 unnecessarily destroys many of them.

The NIA, one of 25 institutes and centers comprising the National Institutes of Health (NIH), leads the federal effort supporting and conducting research on aging and age-related diseases and special needs of older people.


Story Source:

The above story is based on materials provided by NIH/National Institute On Aging. Note: Materials may be edited for content and length.


Cite This Page:

NIH/National Institute On Aging. "Scientists Isolate Premature Ovarian Failure Gene." ScienceDaily. ScienceDaily, 2 February 2001. <www.sciencedaily.com/releases/2001/01/010131074320.htm>.
NIH/National Institute On Aging. (2001, February 2). Scientists Isolate Premature Ovarian Failure Gene. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2001/01/010131074320.htm
NIH/National Institute On Aging. "Scientists Isolate Premature Ovarian Failure Gene." ScienceDaily. www.sciencedaily.com/releases/2001/01/010131074320.htm (accessed October 31, 2014).

Share This



More Health & Medicine News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

U.S. Ebola Response Measures Demonstrated

U.S. Ebola Response Measures Demonstrated

AP (Oct. 31, 2014) Officials in the Washington area showed off Ebola response measures being taken at Dulles International Airport and the National Institutes of Health. (Oct. 31) Video provided by AP
Powered by NewsLook.com
Fauci Says Ebola Risk in US "essentially Zero"

Fauci Says Ebola Risk in US "essentially Zero"

AP (Oct. 30, 2014) NIAID Director Anthony Fauci said the risk of Ebola becoming an epidemic in the U.S. is essentially zero Thursday at the Washington Ideas Forum. He also said an Ebola vaccine will be tested in West Africa in the next few months. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Nurse Defies Ebola Quarantine With Bike Ride

Nurse Defies Ebola Quarantine With Bike Ride

AP (Oct. 30, 2014) A nurse who vowed to defy Maine's voluntary quarantine for health care workers who treated Ebola patients followed through on her promise Thursday, leaving her home for an hour-long bike ride. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Pot-Infused Edibles Raise Concerns in Colorado

Pot-Infused Edibles Raise Concerns in Colorado

AFP (Oct. 30, 2014) Colorado may have legalized marijuana for recreational use, but the debate around the decision still continues, with a recent - failed - attempt to ban cannabis-infused edibles. Duration: 01:53 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins