A new research project at the University of Kansas Life Span Institute will focus on increasing understanding of which premutation carriers will develop FXTAS during middle or later adulthood, and why. The hope is that this information will help prevent the disease or advance treatments when it is in its earliest stages.
The most common inherited cause of intellectual disability, fragile X syndrome, is caused by mutations in a single gene, the FMR1 gene. FMR1 mutations occur when parents possess a smaller mutation, or “premutation,” that then mutates further in the child.
These premutations previously were thought to be benign outside of their potential to cause fragile X syndrome in offspring, but in the past 20 years, scientists have learned that in fact they are linked with multiple severe conditions, including the neurodegenerative condition fragile X-associated tremor/ataxia syndrome, or FXTAS, which affects individuals’ movement and cognitive abilities during aging.
A new research project at the University of Kansas Life Span Institute will focus on increasing understanding of which premutation carriers will develop FXTAS during middle or later adulthood, and why. The hope is that this information will help prevent the disease or advance treatments when it is in its earliest stages.
“We now know that FMR1 premutations are not benign,” said Matt Mosconi, director of the KU BRAIN Lab and the Kansas Center for Autism Research and Treatment. “They're associated with a number of challenges throughout the lifespan. The most severe of these become noticeable when individuals with the premutation or premutation carriers reach middle to later adulthood.”
The five-year, $3.1 million grant from the National Institutes of Health will fund the study of key motor behaviors, cognitive functions and brain changes among individuals with FXTAS. It will be led by Mosconi, and the project also includes co-investigator Randi Hagerman of the University of California-Davis MIND Institute, who first identified FXTAS in several individuals two decades ago.
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Photo Caption: A new research project at the University of Kansas Life Span Institute will study the onset of FXTAS during middle or later adulthood. Adobe Images/Christina Knott illustration
