AI Article Synopsis
- The neurological issues in Fragile X syndrome (FraX) are linked to the lack of the Fragile X Mental Retardation Protein (FMRP), which is caused by a malfunction of the FMR1 gene.
- The scarcity of human subjects and samples limits research, prompting the creation of a transgenic mouse model where the FMR1 gene is intentionally knocked out.
- These mice exhibit changes in molecules, structure, and behavior that mirror those seen in FraX patients, serving as effective models for studying the effects of FMRP absence.
Article Abstract
The neurological deficits exhibited by patients with Fragile X syndrome (FraX) have been attributed to the absence of the Fragile X Mental Retardation Protein (FMRP), the product of the FMR1 gene, which is nonfunctional in these individuals. While a great deal has been learned about FraX using non-invasive techniques and autopsy tissue from humans, the limited availability of subjects and specimens severely restricts the rate at which such data can be collected and the types of experimental questions posed. In view of these limitations, a transgenic mouse model of FraX has been constructed in which the FMR1 gene is selectively knocked out (KO) [Bakker et al. (1994) Cell 78:23-33]. These mice show molecular, morphological, and behavioral alterations consistent with phenotypes observed in FraX patients, making them good models to study the absence of FMRP expression.
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