A nucleotide change could initiate fragile X syndrome
Monday, September 1, 2014 · Posted by Rockefeller University Press
Fragile X syndrome is caused by a defect in a gene on the X chromosome called fragile X mental retardation 1 (FMR1). Around 1 in 230 women and 1 in 360 men carry a so-called premutation, in which a series of DNA repeats at one end of the FMR1 gene is slightly longer than normal. These repeats are prone to even further expansion when FMR1 is passed from mother to child, causing the gene to switch off and stop producing a protein that is important for some cognitive functions.
Progressive neurodegenerative disorder linked to R-loop formation, UC Davis researchers find
Thursday, April 17, 2014 · Posted by University of California, Davis
Researchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) — the formation of “R-loops,” which they believe may be associated with the disorder’s neurological symptoms, such as tremors, lack of balance, features of Parkinsonism and cognitive decline.
UNC child neurologist finds potential route to better treatments for Fragile X, autism
Wednesday, October 23, 2013 · Posted by University of North Carolina School of Medicine
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.
Two genetic wrongs make a biochemical right
Sunday, October 20, 2013 · Posted by University of Massachusetts Medical School
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.
Science surprise: Toxic protein made in unusual way may explain brain disorder
Thursday, April 18, 2013 · Posted by University of Michigan Health System
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.
Genetic defect causing fragile X-related disorders more common than thought
Thursday, March 7, 2013 · Posted by University of California – Davis Health System
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.
Fragile X makes brain cells talk too much
Wednesday, February 20, 2013 · Posted by Washington University School of Medicine
“We don’t know precisely how information is encoded in the brain, but we presume that some signals are important and some are noise,” says senior author Vitaly Klyachko, PhD, assistant professor of cell biology and physiology. “Our theoretical model suggests that the changes we detected may make it much more difficult for brain cells to distinguish the important signals from the noise.”
Antibiotic brings some improvement in fragile X syndrome, reports JDBP
Sunday, April 8, 2012 · Posted by Wolters Kluwer Health
This preliminary clinical trial shows small but significant benefits of minocycline in children with FXS. Other treatments for FXS are being investigated, including a new class of drugs called mGluR5 inhibitors. However, minocycline is the only targeted FXS treatment that is currently available by prescription. Because of its long history of use, the side effects and safety characteristics of minocycline are well known.