FMR1 (Fragile X Mental Retardation-1) gene

The FMR1 (Fragile X Mental Retardation-1) gene is located on the X-chromosome and encodes a protein called FMRP (Fragile X Mental Retardation Protein). The FMRP protein is essential for normal cognitive development and female reproductive function.
Major changes in the FMR1 gene can lead to FXS (Fragile X Syndrome) which is the most commonly identified genetic cause of autism. Minor changes in the FMR1 gene can result in premature ovarian aging and deplete ovarian reserve at a younger age.
These changes have also been linked to PCOS-like activity in women who experience excessive follicular activity and overactive ovaries at a younger age.

Our DNA code is decoded in steps of three. This means that the decoding machinery in the cell will move along a string of thousands of DNA bases, three base letters at a time. Each three base triplet, will encode one Amino Acid (AA). These AAs will go towards building a protein.

The FMR1 gene has a region that contains a series of repeated 'CGG' triplets.
Most people will have between 6-54 CGG triplet repeats. Individuals with between 55-200 triplet repeats are said to have a premutation. However when this region of CGG triplet repeats expands beyond 200, then the gene is turned off and cannot produce the encoded FMRP protein. This will cause FXS or premature ovarian failure.
Because the triplet repeat expansion can reach from 55-1000, the condition will manifest varying degrees of severity. Some woman can appear normal and may not have a family history of FXS but can be 'carriers' of the FMR1 premutation. These women can experience infertility and early menopause.

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