alexa Insight into the Genomics of Premature Ovarian Failure
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Review Article

Insight into the Genomics of Premature Ovarian Failure

Sara Stigliani1, Paola Anserini1, Annamaria Jane Nicoletti2, Martina Di Luca2, Fausta Sozzi2, Pier Luigi Venturini1,2 and Paola Scaruffi1*

1Center of Physiopathology of Human Reproduction, Unit of Obstetrics and Gynecology, IRCCS A.O.U. San Martino-IST, Genoa, Italy

2University of Genoa, Genoa, Italy

*Corresponding Author:
Dr. Paola Scaruffi
Center of Physiopathology of Human Reproduction
Unit of Obstetrics and Gynecology
IRCCS A.O.U. San Martino-IST, L.go R. Benzi
10 -16132-Genoa, Italy
Tel: +39-010-5555847
Fax: +39-010-5556909
E-mail: [email protected]

Received date: August 19, 2013; Accepted date: September 18, 2013; Published date: September 23, 2013

Citation: Stigliani S, Anserini P, Nicoletti AJ, Di Luca M, Sozzi F, et al. (2013) Insight into the Genomics of Premature Ovarian Failure. J Mol Genet Med 7:78. doi: 10.4172/1747-0862.1000078

Copyright: © 2013 Stigliani S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited



Primary Ovarian Failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles. It causes infertility in ~1% of women <40 years of age and it has important health consequences for affected patients. POF is a heterogeneous disease, which can develop as a result of a broad variety of pathogenic mechanisms including genetic, autoimmune and iatrogenic causes. However, the mechanisms that cause ovarian dysfunction are poorly understood. Focus on genetic component of the disease has revealed the existence of several causal genetic defects, thus indicating that in addition to some monogenic forms, POF may frequently be a multifactorial disease involving several gene abnormalities and chromosome aberrations. Moreover, most recent studies have highlighted that epigenetic mechanisms may give an additional contribution to POF pathogenesis. This review gives a picture of the state of the art of the complex genetic and epigenetic defects associated with POF, being it clear that a deep comprehension of the molecular etiology of POF may in future early identify those women with higher risk of POF.

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