Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Reproductive Health

Emmanuel Peprah¹ 

[1] National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Blvd RM 5Z00, Rockville, MD 20852, USA

关键词: Female reproductive health;    CGG repeat;    FMR1;    Ovarian insufficiency;    FXPOI;   

Others  :  1132343
DOI  :  10.1186/1742-4755-11-67

 received in 2014-04-09, accepted in 2014-08-13,  发布年份 2014

【 摘 要 】

Fragile X syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The full mutation, defined as >200 cytosine-guanine-guanine (CGG) triplet repeats, causes FXS. Individuals with 55–199 CGG repeats, classified as premutation carriers, are affected by two distinct disorders depending on their premutation status. Disorders associated with premutation carriers include: Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The molecular similarities of FXTAS and FXPOI (e.g. overabundance of FMR1 transcript and intranuclear inclusions) suggest that similar molecular mechanisms underlie both FXTAS and FXPOI. The current hypothesis describes the underlying mechanism for FXTAS as an mRNA gain-of-function mutation, however the underlying mechanism for FXPOI remains unresolved. New data suggests that repeat associated non-AUG (RAN) translation could underlie FXPOI.

【 授权许可】

   
2014 Peprah; licensee BioMed Central Ltd.

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