Fragile X Syndrome

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Fragile X Syndrome
Fragile X syndrome (also called Fragile X) is the most common inherited form of mental retardation. It results from a change, or mutation, in a single gene, which can be passed from one generation to the next. Fragile X appears in families of every ethnic group and income level.
The underlying cause of Fragile X is a change in a single gene, the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome.
The gene’s chemical code for a protein has two parts: the introduction area (promoter), and the instructions for creating the protein. The instructions for making the protein are inside the cell’s nucleus, but the parts that actually make the protein are outside the nucleus. To send the instructions to the protein-producing areas of the cell, the gene “reads” the chemical code and rewrites it into a new form (called messenger RNA). The new form is then sent out of the cell’s nucleus to make proteins. But, if either the original code or the new form of the code is incorrect or has missing parts, the cell can’t make the correct protein. Without the protein, the body may not develop or function normally.
The FMR1 gene contains too many repeats of one specific sequence, CGG, which is an important part of the promoter region for making FMRP.
Source: National Institute of Child Health and Human Development, National Institutes of Health.
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