What is the Origin of FMR1 Gene?

The gene is located on the X chromosome at position Xq27.3, and its association with human disease was first established in the early 1990s with the discovery of its link to Fragile X Syndrome. The subsequent identification of the premutation's link to ovarian dysfunction and early menopause established its critical role in reproductive endocrinology. The condition is now recognized as a spectrum of ovarian aging.

What is the Mechanism of FMR1 Gene?

The mechanism for FXPOI is complex and is believed to involve a toxic gain-of-function effect of the expanded FMR1 messenger RNA, or mRNA, rather than a loss of the FMRP itself. This excess, unstable mRNA can sequester and interfere with the function of other proteins in the cell, leading to cellular stress and ultimately increased atresia, or programmed cell death, of ovarian follicles. The resulting accelerated loss of follicles directly causes diminished ovarian reserve and the subsequent decline in estrogen and progesterone production characteristic of POI.

FMR1 Gene ∞ Area

FMR1 Gene

Meaning

The FMR1 Gene, or Fragile X Mental Retardation 1 Gene, is an X-linked gene that codes for the Fragile X Mental Retardation Protein, or FMRP, a protein essential for normal cognitive development and ovarian function. In the hormonal health space, a premutation, defined as a specific expansion of CGG trinucleotide repeats within the gene, is the most common known single-gene cause of premature ovarian insufficiency, or POI. This condition, known as Fragile X-associated Primary Ovarian Insufficiency, or FXPOI, results in reduced ovarian reserve and often leads to early menopause and sex steroid hormone deficiency.