Familial Premature Ovarian Failure

Mattison, Donald R.; Evans, Mark I.; Schwimmer, Walter B.; White, Beverly J.; Jensen, B; Schulman, Joseph D.

doi:10.1097/00006254-198506000-00016

Cited by 30 publications

(41 citation statements)

References 18 publications

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“…The incidence of POF is estimated to be 1%. Although some POF cases have been associated with certain genetic factors, the etiology of the majority of POF cases remains unknown (1,11,32).…”

Section: Discussionmentioning

confidence: 99%

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Accelerated Ovarian Failure Induced by 4-Vinyl Cyclohexene Diepoxide in Nrf2 Null Mice

Roberts

Apopa

et al. 2006

Molecular and Cellular Biology

105

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Genetic and biochemical analyses have uncovered an essential role for nuclear factor erythroid 2-related factor 2 (Nrf2) in regulating phase II xenobiotic metabolism and antioxidant response. Here we show that Nrf2 protects against the ovarian toxicity of 4-vinylcyclohexene diepoxide (VCD) in mice. Nrf2؊/؊ female mice exposed to VCD exhibit an age-dependent decline in reproduction leading to secondary infertility accompanied by hypergonadotropic hypogonadism after 30 weeks of age. VCD is shown to selectively destroy small ovarian follicles, resulting in early depletion of functional follicles. Treatment with VCD induces apoptotic death in cultured cells and in ovarian follicles, suggesting apoptosis as a mechanism of follicle loss. Loss of Nrf2 function blocks the basal and inducible expression of microsomal epoxide hydrolase, a key enzyme in the detoxification of VCD, and increases the oxidative stress in cells that is further exacerbated by VCD. Foxo3a, a repressor in the early stages of follicle activation, displays reduced expression in Nrf2 ؊/؊ ovaries, causing accelerated growth of follicles in the absence of exposure to exogenous chemicals. Furthermore, Foxo3a is degraded through the 26S proteasome pathway in untreated cells and is induced by VCD via both Nrf2-dependent transcription and protein stabilization. This study demonstrates that Nrf2 serves as an essential sensor and regulator of chemical homeostasis in ovarian cells, protecting the cells from toxic chemicals by controlling metabolic detoxification, reactive oxygen species defense, and Foxo3a expression. In addition, these findings raise the possibility that exposure to environmental or occupational ovotoxicants plays a role in the premature ovarian failure commonly associated with infertility and premature aging in women.

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“…The incidence of POF is estimated to be 1%. Although some POF cases have been associated with certain genetic factors, the etiology of the majority of POF cases remains unknown (1,11,32).…”

Section: Discussionmentioning

confidence: 99%

“…A limited number of genetic and environmental factors have been associated with follicle destruction and early depletion, giving rise to POF (1,18,32). For example, smoking is known to be associated with early menopause, and polycyclic aromatic hydrocarbons, major toxic components of cigarette smoke, cause follicle destruction in experimental animals (31).…”

mentioning

confidence: 99%

Accelerated Ovarian Failure Induced by 4-Vinyl Cyclohexene Diepoxide in Nrf2 Null Mice

Roberts

Apopa

et al. 2006

Molecular and Cellular Biology

105

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“…Familial cases show a clear pattern of dominant inheritance, with expression restricted to females (Mattison et al, 1984). A possible association of the fragile X premutation with premature ovarian failure was first reported by Cronister et al (1991), who found eight women with POF among 61 normal fra(X) heterozygotes.…”

Section: Introductionmentioning

confidence: 99%

Premature ovarian failure (POF) in Brazilian fragile X carriers

et al. 1999

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The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation.
Entrevistamos 193 mulheres de famílias com afetados pela síndrome do cromossomo X frágil, quanto a sua história ginecológica e reprodutiva. Entre as 101 portadoras da pré-mutação, 14 tiveram menopausa precoce, mas nenhuma das 37 portadoras da mutação completa ou das 55 não portadoras apresentaram esta anomalia. Observamos uma tendência para a concentração da menopausa precoce em certas famílias, o que poderia significar uma peculiariedade de certas pré-mutações. Entretanto, o fato de as mulheres pré-mutadas tenderem a entrar em menopausa mais cedo do que as não portadoras sugere que a menopausa precoce seja o extremo do espectro de efeitos ovarianos da pré-mutação

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“…Although epidemiological evidence based on mother-daughter pairs supports the heritability of menopausal age [95,96] and some Authors reported cases of familial premature menopause [97,98], very little is known about the inheritance pattern of the idiopathic POF. The overall incidence of familial POF ranges between 4% and 31% depending on the inclusion criteria adopted and the availability of a detailed family history [95,96,98].…”

Section: Genetics Of Familial Idiopathic Pofmentioning

confidence: 99%

Insight into the Genomics of Premature Ovarian Failure

Stigliani¹

2013

J Mol Genet Med

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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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Familial Premature Ovarian Failure

Cited by 30 publications

References 18 publications

Accelerated Ovarian Failure Induced by 4-Vinyl Cyclohexene Diepoxide in Nrf2 Null Mice

Accelerated Ovarian Failure Induced by 4-Vinyl Cyclohexene Diepoxide in Nrf2 Null Mice

Premature ovarian failure (POF) in Brazilian fragile X carriers

Insight into the Genomics of Premature Ovarian Failure

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