Premature Ovarian Failure (POF) is a disorder of women reproduction characterized by early onset of menopause (before 40 years of age). It is accompanied by severe problems of infertility and by cardiovascular and bone disorders. POF is a common disorder affecting about 1% of females worldwide. Despite its genetic component is demonstrated by the relevant portion of familial cases, few genes were found associated and the majority of genetic determinants are not known.
The new study, conducted by the group Dr. D. Toniolo and Dr. S. Bione from the Institute of Molecular Genetics CNR, in collaboration with a research team from University of Uppsala, Sweden, shed light on a new gene involved in POF. The PGRMC1 gene is part of a protein complex that regulates the anti-apoptotic action of progesterone in ovarian cells. Its role in the pathogenesis of POF has been established by the analysis of a cohort of POF affected women, in some of which alterations of the expression or function of the gene were assessed.
The work was supported by the grant GGP05029 from Fondazione Telethon.
Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet. 2008 Dec 1;17(23):3776-83
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