January 20, 2015

USA - Stand Up 2 Cancer Telecast Arrivals - Los AngelesFragile X is a genetic disorder that causes cognitive disabilities, seizures, speech delays, anxiety, and autistic-like behaviors. It is a form of autism that has a clear genetic link – a mutation on the X chromosome that halts the production of a protein that is essential for brain development. It can be diagnosed with a blood test, making it unique among other autism spectrum disorders whose cause is still a mystery.

Katie Couric recently interviewed the Silver family, whose son, Justin, was diagnosed with Fragile X Syndrome at the age of five. His parents, Shari and Brian, had never heard of the disorder, and they reached out to Dr. Randi Hagerman, medical director of the UC Davis Mind Institute and director of the Fragile X Research and Treatment Center. She told Katie Couric,

“When you have Fragile X Syndrome, and you have what’s called a full mutation in the Fragile X gene, the gene kind of shuts down and doesn’t produce this Fragile X protein. Now this protein is very important for brain development, not only in childhood, but it’s important for brain development throughout life. . . it’s the window for understanding autism.”


You can see the full interview here http://news.yahoo.com/katie-couric-examines-fragile-x-the-window-to-understanding-autism-205606739.html

Fragile X is more common in males, due to the fact that they only have one X chromosome. It currently affects 1 in 4000 boys and 1 in 6000 girls. Females who carry the gene are more likely to be carriers, increasing the chance that they will give birth to a child affected by the disorder. Genetic testing can determine whether or not a woman is a carrier for the gene. Women who are carriers may choose to have their eggs tested via IVF, or to use donor eggs, if they are concerned about passing on the disorder to their child.

Treatment for Fragile X is similar to treatment for autism – targeting the physical and behavioral issues affecting the individual. As with autism, there is no cure for Fragile X, but there has been some promising research. Autism Daily Newscast recently reported on a Canadian study from the University of Edinburgh and McGill University. Researchers discovered a key molecule, eIF4E, that regulates the production of an enzyme called MMP-9, which breaks down and re-orders connections between synapses in the brain, leading to cognitive, social and behavioral difficulties. Researchers treated the affected mice with Cercosporamide, a drug that is currently being tested for lung cancer and acute myeloid leukemia. The results showed a reduced amount of MMP-9, reversing the behavioral symptoms in mice.

Dr. Christos Gkogkas, a Chancellor’s Fellow at the University of Edinburgh’s Patrick Wild Center for Research into Autism, Fragile X Syndrome, and Intellectual Disabilities, said,

“Our findings open the door to targeted treatments for Fragile X Syndrome. By designing treatments that block just this pathway, it is hoped that we can limit the potential side-effects and develop therapies that are more efficient than general treatment approaches.”

You can read the original article, Fragile X study offers hope of new autism treatment, here https://www.autismdailynewscast.com/fragile-x-study-offers-hope-of-new-autism-treatment/19466/pressrelease/.

About the author 

Laurel Joss

Laurel Joss is a freelance writer with a Master’s Degree in Early Childhood Education. She worked as an RDI® Program Certified Consultant and has published articles in Autism Spectrum Quarterly and on her blog www.remediatingautism.blogspot.com. She is a mother to two children, one of whom is on the autism spectrum. You can also follow her on https://twitter.com/speaking_autism and https://www.facebook.com/speaking.autism.ca

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