Scientists Isolate Premature Ovarian Failure Gene.(FOXL2)

2001 FEB 15 - (NewsRx.com) -- 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.

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 might 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, PhD, of the U.S. National Institute of Aging Laboratory of Genetics in Baltimore, Maryland. 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 Schlessinger, a co-author 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." 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 ...