ST. LOUIS. Mo. - 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.
However, doctors have discovered the next big thing that 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.
Vicki Davis, mother of Fragile X patient Holly, told Ivanhoe, “I had to prepare myself mentally and emotionally for the most severe affected child.”
Holly’s mom was told her little girl had Fragile X while she was still in the womb. It’s a mutation of a gene on the X chromosome that leads to a lack of protein production, critical for development.
Neuroscientist and Neurologist at Washington University in St. Louis, Azad Bonni, MD, PhD, explained, “The mutations that happen in this gene that causes Fragile X syndrome, is the most common inherited single gene cause of autism.”
Researchers at the Washington University School of Medicine have identified a potential target for treatments for Fragile X carriers. Dr. Bonni said, “In the brain, nerve cells communicate with each other by synapsis.”
Dr. 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 was 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,” said Dr. Bonni. 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.
BACKGROUND: Fragile X syndrome is a genetic condition that causes mental disabilities, most commonly learning disabilities and cognitive impairment. More often seen in male children, it’s the most common inherited form of intellectual disability, learning and behavioral problems such as ADD, ADHD and autism. About one in 4,000 males and one in 8,000 females are affected. Fragile X occurs when the mutated FMR1 gene doesn’t produce enough of the protein FMRP to allow the brain to function normally. It is inherited through an X-linked dominant pattern by changes in the single X chromosome. People affected by Fragile X syndrome can have symptoms that range from mild to severe, but men most frequently suffer the most severe physical and mental ailments. The physical signs continue to worsen as men get older and seizures occur in about 15 percent of males, and only 5 percent of females. Source
SIGNS AND SYMPTOMS: By age two, infants with Fragile X will show signs of delayed development of speech and language. Children continue to show low IQ’s, stuttering or speech issues and sensitivity to sensory activities such as certain sounds. They may also have balance issues. Males with Fragile X syndrome show physical characteristics of a long face, large ears and soft skin. Males may suffer from ear infections, double-jointed or extremely flexible fingers, flat feet and enlarged testicles after puberty. Females may not show many signs as women suffer from Fragile X syndrome with milder intellectual disability and less physical signs than men. Women most often have strong emotional issues and social anxiety. Symptoms do vary, but autistic-like behavior and Fragile X syndrome overlap most frequently. Fragile X syndrome can be diagnosed before a baby is born with a prenatal test. Source
NEW TECHNOLOGY: People with Fragile X syndrome do not have a shortened life expectancy. But carriers of Fragile X syndrome may pass it on to their children, even if they have a mild case. Azad Bonni, M.D., PhD, the Edison Professor of Neurobiology at Washington University School of Medicine in St. Louis has found a potential solution for carriers with this mild version. Researchers have found that an issue with the X chromosome causes the FMR1 gene to stop making the protein that helps nerve cells communicate, so they can now find a way to turn on the FMR1 gene to make the proper protein. “In contrast, carriers of the mutation make the protein but produce significantly less of it than people without the mutation. We’ve just identified a potential way to boost levels of protein,” Bonni said. The results could be life changing for carriers. Source
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