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Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several years ago, MIT neuroscientist Mark Bear discovered that this mutation leads to overproduction of proteins found in brain synapses — the connections between neurons that allow them to communicate with each other.
Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability. As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions. The results are published in the July 22nd issue of the journal Cell, published by Cell Press.
Children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may benefit from an experimental drug under study by pediatric neurologists at Rush Children’s Hospital at Rush University Medical Center. Rush is the only site in Illinois and one of 21 hospitals in the U.S. participating in the trial for Fragile X.
In small, early clinical trials, adults and children with autism and Fragile X syndrome have shown improved communication and social behavior when treated with acamprosate, according to Craig Erickson, M.D., assistant professor of psychiatry at the Indiana University School of Medicine and chief of the Riley Hospital for Children Christian Sarkine Autism Treatment Center at Indiana University Health.
Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs). The research is currently published in Molecular Autism.
Expression of a toxic RNA that leads to Fragile X Tremor Ataxia Syndrome is modifiable by genetic or pharmacologic means, according to new research from U-M Medical School scientists. In the study published online today in the journal Public Library Of Science Genetics, U-M’s Peter K. Todd, M.D., Ph.D., led a team of researchers who examined the expression of a toxic messenger RNA (mRNA) seen in the brains of those afflicted with the syndrome. Check the end of this report for a link to download this open access study.
Funding from an anonymous wealthy family has been the secret to progress, at long last, in developing drugs that show promise for helping millions of people worldwide with Fragile X syndrome, the most common genetic cause of autism. That’s the topic of a fascinating article in the current issue of Chemical & Engineering News (C&EN), ACS’ weekly newsmagazine. Check the end of this report for a link to view the original full-length article.
One of the antibiotics most commonly prescribed to treat adolescent acne can increase attention spans and communication and decrease anxiety in patients with fragile X syndrome, the most common inherited cause of mental impairment, according to a new survey study that is the first published on parents’ reports of their children’s responses to treatment with the medication.
Researchers at India’s National Centre for Biological Sciences (NCBS) and New York University’s Center for Neural Science have identified novel synaptic defects in an area of the brain that is involved in the debilitating emotional symptoms of Fragile X Syndrome (FXS). FXS is the leading known genetic cause of autism and mental retardation. The study, [...]
Differences in brain growth patterns between preschool-aged boys with Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, and their healthy peers suggest that the disorder may affect brain development both before and after birth, according to NIMH-funded researchers. In addition, their findings indicate ages 1-5 are an important window for better [...]
