fragile X syndrome

The medical school is one of four sites nationwide that will collect, store and distribute brain tissue to scientists studying the disease, which affects an estimated one in 68 children. UT Southwestern is an inaugural member of Autism BrainNet, an initiative created last year by The Simons Foundation, Autism Speaks and the Autism Science Foundation. The group also created an outreach program and tissue donation registration site called It Takes Brains. UT Southwestern will collect autistic and normal brain tissue samples in the South Central and Midwest regions of the U.S. to be distributed to researchers around the world.

With growing numbers of clinical trials getting under way involving conditions such as Down syndrome and Fragile X syndrome, researchers are trying new strategies to ensure people with the conditions, which typically involve intellectual disabilities, understand the risks and benefits of participating in trials.

“The ability to reverse their tracks is important to their ability to eventually get where they need to go,” Gonsalvez said. And location is really everything, because the proteins need to be expressed in a specific location to function correctly.

Malanga’s finding suggests that not all people with Fragile X share the same biological hurdles. The same is likely true, he said, for people with other autism-related disorders, such as Rett syndrome and Angelman syndrome.

The prime cause of the Fragile X syndrome may be a translational imbalance that results in elevated protein production in the brain. Restoration of this balance may be necessary for normal neurological function.

The majority of human diseases are complex and caused by a combination of genetic, environmental and lifestyle factors. On the other end of the spectrum are Mendelian diseases such as cystic fibrosis and sickle-cell anemia, which are caused by abnormalities to a single gene. Some Mendelian disorders are known to predispose patients to certain complex diseases, but these co-occurrences have thus far only been studied on a small-scale basis.

Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics.

The condition, called Fragile X-associated Tremor Ataxia Syndrome (FXTAS), causes shakiness and balance problems and is often misdiagnosed as Parkinsons disease. The grandchildren of people with the disease have a separate disorder called Fragile X syndrome, caused by problems in the same gene. The new discovery may also help shine light on that disease, though indirectly.

A single genetic defect on the X chromosome that can result in a wide array of conditions from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men occurs at a much greater frequency than previously thought, research led by the UC Davis MIND Institute has found.