Early-onset menopause may have a genetic trigger

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News from The Scientist 2001, 2(1):20010201-03

Published 1 February 2001

The early onset of menopause and a condition called blepharophimosis, which causes drooping eyelids, seem to be caused by the same genetic defect, according to findings published in the February issue of Nature Genetics.

A gene called FOXL2 has been identified on human chromosome 3 that seems to act as a transcription factor (that is, it turns other genes 'on' or 'off') in the development of normal eyelids and, in women, in the formation of a full complement of eggs in the ovaries before birth.

FOXL2 was isolated partly because chromosome 3 had been implicated in families with a history of blepharophimosis and premature ovarian failure. Radiation therapy, chemotherapy and autoimmune disorders are all known to trigger ovarian failure, but up to 30% of sufferers are known to have at least one female relative with the condition.

David Schlessinger, co-author of the study and Chief of the National Institute on Aging's laboratory in Baltimore, said that the findings establish blepharophimosis as a potential marker for the early onset of menopause in some women. "Although we are talking about an age-related condition, menopause, all of the critical events have occurred in foetal development that determine when menopause will occur," Schlessinger said. He added: "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."



References

1.  [http://www.nature.com/ng/]
  Crisponi L, Deiana M, Loi A, et al: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001, 27:159-166.
Return to citation in text: [1]
 
2.  [http://www.nih.gov/nia/news/pr/2001/0131.htm]
  National Institute on Aging — Press Release.
Return to citation in text: [1]
 


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