Presentation Title

Determining the Effects of FOXL2 mutations on FSHB Induction

Start Date

November 2016

End Date

November 2016

Location

HUB 302-#89

Type of Presentation

Poster

Abstract

Premature ovarian failure (POF) is the loss of ovarian function before the age of 40. Patients with POF are infertile, do not menstruate, have low estrogen levels, and high levels of follicle-stimulating hormone (FSH). Another disease known as Blepharophimosis ptosis epicanthus inversus syndrome (BPES) Type I leads to abnormal eyelid development and is associated with POF. Mutations in the FOXL2 gene have been found in patients with these diseases. FOXL2 is a necessary component in FSHβ synthesis and mutations could contribute to the altered regulation of FSH in POF and BPES patients.

The aim of this study was to determine how FOXL2 mutations affect the FSHβ induction pathway, leading to POF and BPES. The effects of FOXL2 mutations on FSHβ expression were tested by transfecting FOXL2 mutant expression vectors into a pituitary-specific LβT2 cell line. Human and mouse FSHβ luciferase reporters were used to measure changes in FSHβ expression in order to determine if the effects of FOXL2 mutations are conserved in both species. Results indicate that FSHβ expression responds to mutations of FOXL2. Potentially, this study could bring us one step closer towards treating patients with these reproductive disorders

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Nov 12th, 4:00 PM Nov 12th, 5:00 PM

Determining the Effects of FOXL2 mutations on FSHB Induction

HUB 302-#89

Premature ovarian failure (POF) is the loss of ovarian function before the age of 40. Patients with POF are infertile, do not menstruate, have low estrogen levels, and high levels of follicle-stimulating hormone (FSH). Another disease known as Blepharophimosis ptosis epicanthus inversus syndrome (BPES) Type I leads to abnormal eyelid development and is associated with POF. Mutations in the FOXL2 gene have been found in patients with these diseases. FOXL2 is a necessary component in FSHβ synthesis and mutations could contribute to the altered regulation of FSH in POF and BPES patients.

The aim of this study was to determine how FOXL2 mutations affect the FSHβ induction pathway, leading to POF and BPES. The effects of FOXL2 mutations on FSHβ expression were tested by transfecting FOXL2 mutant expression vectors into a pituitary-specific LβT2 cell line. Human and mouse FSHβ luciferase reporters were used to measure changes in FSHβ expression in order to determine if the effects of FOXL2 mutations are conserved in both species. Results indicate that FSHβ expression responds to mutations of FOXL2. Potentially, this study could bring us one step closer towards treating patients with these reproductive disorders