Recent findings regarding Fragile X are being discussed at the 13th International Fragile X Conference in Miami. These include that many of the approximately one million carriers of the Fragile X (FX) gene premutation in the U.S., previously believed to be spared from consequences of the mutation responsible for Fragile X syndrome (FXS), appear to be at increased risk for development of several significant and adverse health conditions such as:
- psychological, neurological and auto-immune problems in addition to the already recognized conditions of:
- Fragile X-associated tremor/ataxia syndrome (FXTAS), a debilitating neurological condition which in advanced stages can resemble a combination of Parkinson’s and Alzheimer’s,
- Fragile X-associated primary ovarian insufficiency (FXPOI), an ovarian disorder which can include the loss of the ability to bear children due to early onset menopause.
Marsha Mailick Seltzer, PhD, Director of the Waisman Center at the University of Wisconsin will present the results of research funded by the Centers for Disease Control. Titled “Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample” and published in the American Journal of Medical Genetics.
- Additional research, involving newborn screening, will be submitted for publication in the near future and comes to a similar conclusion, regarding prevalence, as that of Dr. Seltzer.
- The additional research is being supported by the National Institutes of Health, and is being conducted by noted Fragile X researchers Flora Tassone, PhD, UC Davis California; Don Bailey, PhD, Research Triangle International in North Carolina and Elizabeth Berry-Kravis, MD, PhD from Rush University Medical Center in Chicago.
Other breakthrough findings suggest that the FX protein plays a role in controlling many of the proteins that are the root causes of autism.
- The Fragile X protein appears to regulate expression of many genes identified as likely causes of autism or autism spectrum disorders. The protein has long been known to play a critical role in brain development and function and, when absent, is responsible for the cognitive and behavioral components of FXS, the most common known genetic cause of autism.
- Dr. Berry-Kravis, along with Randi Hagerman, MD, medical director of the UC Davis M.I.N.D. Institute, will discuss these striking new findings based on the work of Dr. Michael Wigler from the Cold Spring Harbor Lab in New York, in collaboration with Dr. Jennifer Darnell and others, recently published in the journal Neuron a paper called “De Novo Gene Disruptions in Children on the Autistic Spectrum.”
The new findings confirming the widespread prevalence of FX gene mutations, along with the latest studies linking the FX protein to autism, are certain to have far-reaching public health implications.
Raw Video Footage from Fragile X Press Conference
- Download (mp4, 1920×1080)