New breakthrough for Fragile X syndrome - WTVM.com-Columbus, GA News Weather & Sports

New breakthrough for Fragile X syndrome

(Source: Ivanhoe Newswire) (Source: Ivanhoe Newswire)

ST. LOUIS (Ivanhoe Newswire/WTVM) - Fragile X syndrome is a genetic condition that causes intellectual disability, learning challenges, autism and behavioral problems.

It occurs in more boys than girls and you may be a carrier of the gene and not show any signs or symptoms. Now, medicine’s next big thing may open the door for treating the most common cause of this condition.

You may not have ever heard of it, but, Fragile X is a developmental disorder that can be diagnosed before your baby is even born.

It’s a mutation of a gene on the X chromosome that leads to a lack of protein production, critical for development.

“The mutations that happen in this gene that causes Fragile X syndrome, is the most common inherited single gene cause of autism," neuroscientist and Neurologist at Washington University in St. Louis, Azad Bonni, MD, PhD, explained. 

Now, researchers at the Washington University School of Medicine have identified a potential target for treatments for Fragile X carriers.

“In the brain, nerve cells communicate with each other by synapses.” Bonni said. 

Bonni found that a problem on the X chromosome causes a gene, called FMR1, to stop making a special protein that helps the nerve cells talk to one another.  Now that researchers know this is happening, they can find a way to turn on the FMR1 gene to make the protein. The results could be life-changing.

“Reduce the symptoms in the carriers. Basically they just have milder versions,” Bonni said.

Giving kids like Holly a chance of growing up without outward signs of Fragile X.

The average age of diagnosis for Fragile X is between three and four years old. Parents usually notice the first symptoms before the age of two.  By targeting this protein, it could impact a significant number of the one million women carriers and 320,000 men who carry the mutation in the United States.

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