Treatment of fragile X syndrome.

Fragile X syndrome and targeted treatment trials.

Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overe...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...

Fragile X Syndrome

groups with asthma. Thus the scientist must weigh the advantages of performing genetic studies in small, historically isolated populations with the potential disadvantage of being unable to eventually generalize the studies’ results. SEE ALSO Genetic Drift; Hardy-Weinberg Equilibrium; Inbreeding; Linkage and Recombination; Mapping; Population Bottleneck; Population Genetics; Tay-Sachs Disease.