Thursday, March 7, 2024

Fragile X Syndrome, What's New?

Recently as of January 18th, researchers have expanded their knowledge of the genetic mechanisms that underly Fragile X Syndrome. We know that Fragile X Syndrome (FXS) is "a genetic disorder caused by the gene FMR1". This genetic disorder is the most common form of an inherited intellectual disability and quite often goes hand in hand with some other conditions like autism and even epilepsy. Symptoms of FXS include developmental delays, behavior problems, social problems, as well as learning disabilities. 

The gene FMR1 is located on the X chromosome and the first part of this gene is made of a specific sequence. When the repeats of this sequence start to expand uncontrollably, this is what causes Fragile X Syndrome. The typical sequence should have less than 40 repeats while the mutation can have over 200 repeats.

Researchers have unveiled major insights about the genetic mechanisms causing the FMR1 mutation. They found that along with the uncontrolled repeating of the special FMR1 sequence, many other genes have been silenced. These genes that have been silenced have massive roles in making sure the brain works properly and also in building tissues.

This is a massive discovery for this particular disorder as it was previously not known why there was uncontrolled replication of the FMR1 sequence. The discovery of this cause of FXS has increased the understanding that people have of this disorder and is a large step to possibly finding a way to prevent this issue from happening with children in the future.


(News article)

(Scientific article)


(Additional source)

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