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The fragile X syndrome is tied to ova inability to create multiple large proteins

Detalle de un investigador trabajando
Thursday, December 13, 2018

The syndrome of the fragile X is the most common inherited intellectual disease inside the autistic spectrum disorders and is caused by mutations in the gene FMR1 (fragile X mental retardation 1 gene). The mutation of this gene also can cause the primary ovarian insufficiency. The women affected by this possess an abnormally low number of ova or suffer from precocious menopause. In a normal way, the gene FMR1 produces a protein necessary for the proper development of the brain, but when this one is defective, it does not produce the protein or produces in a very limited amount. In this last case, learning problems, cases of serious intellectual disability, emotional problems or difficulties in the speech may occur. This protein produced by FMR1 is known to act as a kind of watcher that controls the production of many key genes, especially in cerebral and ovarian tissues. Actually, the monitoring mechanism of FMR1 on these genes is not precisely known. 

Up to the date, a specific and effective technology suitable for studying the genetic and physiological bases of this mutation did not exist. Recently, scientists of the Carnegie Institution for Science have described a method, published in the magazine Science, capable of examining in depth this mutation. The researchers described the changes produced both in mature ova and in embryos of fly Drosophila (fly of the fruit) after inhibiting the gene FMR1. They observed that the viability of the fly embryos with the gene inhibited was less than in the embryos control. In addition, more than half of the embryos with the FMR1 inhibited were not capable of developing correctly the nervous system, as it was in the fragile X syndrome. They also stated that ova with such mutation produced far less multiple large proteins whose absence is associated with human autism and mental dysfunction.

This new research pattern through Drosophila would facilitate in-depth studies on the FMR1 functioning and the seeking of new possible therapeutic targets to help in the future to treat a wide range of diseases, including the X fragile syndrome.

Access to the original source:
Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins by Ethan J. Greenblatt, Allan C. Spradling | Science 

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