Word: genes
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Dates: during 2000-2009
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...exactly is going awry in the brains of people who have autism? The answer is very slowly coming into focus. A paper published in the current issue of Science by researchers at Children's Hospital Boston and members of the Boston-based Autism Consortium identifies five new autism-related gene defects. Already, more than a dozen genetic defects have been found to be associated with autism spectrum disorders, which affect about 1 in 150 children, according to the Centers for Disease Control and Prevention. But the good news, say the Boston researchers, is that many of the genes are beginning...
...years ago, no one would have connected Max's autism and other symptoms with Gary's neurological decline or Cari's premature signs of menopause. Now, however, researchers realize that all three are caused by changes in the same gene, one that's related to a disorder called fragile X syndrome (FXS), perhaps the most complicated genetic condition you've never heard of. Max has full-blown FXS. The disorder, as its name implies, is the result of a defective gene on the X chromosome, one of the pair of chromosomes that determines gender. FXS affects roughly...
Fragile X Foundation and FRAXA, is yielding insights that have implications for understanding and treating autism--and perhaps a number of other conditions too. "Fragile X is leading the autism field in terms of new treatments," says pediatrician Randi Hagerman, medical director of the MIND Institute. "We know the gene, we know a lot about the biology, and we know how to fix it. That's pretty exciting...
...gene involved in all these disorders codes for a critical brain protein known as the fragile X mental-retardation protein (FMRP). This protein normally acts as a brake on the production of other proteins associated with learning and memory. But when more than 200 CGG repeats are present, the gene for FMRP tends to shut down and production of the other proteins spins out of control. The brain develops too many connections, or synapses, many of them immature and flimsy. The resulting symptoms range from learning disorders to mental retardation and often include autism, epilepsy, anxiety disorders and attention-deficit...
Drugs to treat this adult-onset condition would have to work differently from the ones used to treat fragile X syndrome because the biology of the disease is different too. In fragile X, the key gene is silent; in FXTAS patients, it's too active. "The gene produces up to 10 times more message than normal," explains molecular biologist Paul Hagerman of the University of California at Davis, who together with wife Randi has received an NIH grant to study the disorder. Over time, messenger RNA--the substance that transcribes genes into proteins--accumulates in the nuclei of brain cells...