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Autism May Be Linked to Mutation in the STRAD-Alpha Gene

Discussion in 'Other Health News and Research' started by Rosemary, Jun 21, 2010.

  1. Rosemary

    Rosemary Senior Member

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    Autism May Be Linked to Mutation in the STRAD-Alpha Gene

    Though Autism is often considered to be the incurable condition, there are researchers all over the world studying and making connections between Autism and other psychological disorders. Most recently, a team at the University of Pennsylvania School of Medicine discovered a connection between a rare disease affecting Amish children and the commonly diagnosed Autism and Epilepsy disorders.

    The researchers found that a mutation in the STRAD-alpha gene can cause a rare but severe brain disorder known as Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE). Characterized by abnormally increased brain size, PMSE also affects sufferers with its cause of difficulties with cognitive function and epilepsy that is not responsive to medication or treatment.

    In animal case studies, animals that lacked the STRAD-Alpha (also called: STRADA) protein, the pathway for another protein called mTOR is opened. In humans, this opening may promote abnormal cell growth that leads to cognitive impairments especially in children. Its been found that STRADA and mTOR are proteins that make up the complicated molecular structures that are often found in Autism and other behavioral conditions.

    Mutations of the mTOR proteins are found in several disorders including tuberous sclerosis complex (TSC) and other conditions that feature brain tumors. Unlike PMSE, its not STRADA but a different protein is affected by the pathway opening. TSC is a much more common disorder with approximately 1 million sufferers worldwide. Researchers find it to be very interesting that a rare disorder like PMSE and a not-so-rare TSC are comparable by their molecular pathways.

    Adding PMSE to the list of disorders that is affected by the mTOR pathway is a great advancement in the treatment of Autism. Because PMSE shares some of the same symptoms and characteristics of Autism, it sheds a bit more light on Autism and other similar disorders. The more information that researchers find about possible causes and sources of Autism, the more that they can work towards successful treatments.

    http://www.newautismcure.com/blog/
  2. Rosemary

    Rosemary Senior Member

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    " Mutations of the mTOR proteins are found in several disorders including tuberous sclerosis complex (TSC) and other conditions that feature brain tumors."

    Scientists have used the drug Rapamycin [Sirolimus ] as treatment for tuberous sclerosis complex [TSC]

    " Half of those with TSC are autistic, and as many as one in five people with the condition also suffer from mental retardation, so the hope is that rapamycin may be used to treat learning disabilities and short-term memory deficits in all kinds of autism as well "

    Therefore Rapamycin [Sirolimus] has also been regarded as a potential treatment for autism.

    In a study of Sirolimus as a treatment for TSC, researchers observed a major improvement regarding retardation related to autism
  3. Rosemary

    Rosemary Senior Member

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    Existing Drug Reverses a Form of Mental Retardation in Mice

    Existing Drug Reverses a Form of Mental Retardation in Mice

    Scientists hope medication could treat learning disorders caused by autism

    By Nikhil Swaminathan

    http://www.sciam.com/article.cfm?id=existing-drug-reverses-a&sc=rss

    A drug already on the market for a completely unrelated condition could be used to treat a form of mental retardation linked to autismif the results of a study in mice hold up, researchers report.

    Scientists used rapamycina medication doctors prescribe to patients who have had transplants to prevent their bodies from rejecting the new organsto treat learning disorders associated with a disease called tuberous sclerosis complex (TSC) in mice. TSC is a rare genetic disorder that causes brain tumors, seizures, learning disabilities, skin lesions and kidney tumors in the 50,000 Americans and one million people worldwide who have the disease.

    Half of those with TSC are autistic, and as many as one in five people with the condition also suffer from mental retardation, so the hope is that rapamycin may be used to treat learning disabilities and short-term memory deficits in all kinds of autism as well, says neurobiologist and co-author of a study in Nature Medicine, Alcino Silva of the David Geffen School of Medicine at the University of California, Los Angeles.

    Silva and his colleagues created mice with TSC by removing one copy of the gene TSC2. (If researchers delete both copies of the gene, the resulting mice die shortly after birth.) When the both copies of the gene are turned on in either mice and humans, they produce and regulate proteins that help strengthen connections between nerve cells, which the brain needs to remember and learn.

    The TSC mice performed poorly in various learning tests, such as recalling where a platform was in a pool of water and distinguishing between cages based on what was inside them. In the mice, Silva says, "learning and memory are disrupted just like they [are] affected in most patients with tuberous sclerosis."

    So why try rapamycin? The team got the idea, Silva says, after they realized the drug regulates one of the proteins that the TSC gene does, just in different parts of the body. When they tried the experiment in animals three to six months of agewell into adulthood for mice, according to Silvarapamycin leveled the playing field between normal and TSC mice in as little as three days.

    "What was surprising is that we could give rapamycin to adult mice and reverse their condition," Silva explains. "We did not knowthat this drug would be equally effective for the learning disabilities" as it is for tissue rejection.

    Rapamycin costs about $1,000 per month for transplant recipients. It suppresses the immune system in the bodywhich is necessary to thwart tissue rejection. There are, however, the expected side effects from a drug that suppresses the immune system: impaired wound healing, infections, mouth sores and, in rare instances, skin cancer.

    In addition to the learning deficits, Silva says his team has "early, positive signs" from mouse models that rapamycin may also be able to treat the kidney tumors, skin lesions, brain tumors and epilepsy associated with TSC. David Franz, director of the Tuberous Sclerosis Clinic at Cincinnati Children's Hospital Medical Center, adds that the drug reduced kidney and brain tumors in small clinical trials he has conducted.

    The results of the new work are similar to findings in two other diseases related to autismfragile X syndrome and Rett syndrome. Scientists were able to reverse mental retardation in mice suffering both of those illnesses, as well. Put together, Silva says, these results suggest that researchers are beginning to find brain malfunctions that cause autismand may be possible to reverse.

    These studies "suggest that we're about to have a paradigm shift in how we look at developmental disorders, like autism," he explains. These illnesses should no longer be viewed as something a person is born with, according to Silva, who believes these disorders can be eliminated by altering the brain's biochemistry.

    Franz agrees that rapamycin can modify TSC. He thinks, however, that Silva may be overreaching in extending its benefit to all autism sufferers. "You might make them better," he says, "but I don't think you're going to normalize them."

    The next step, Silva says, is a clinical trial of rapamycin in humans with TSC. That study is already underway at the University of Cambridge in England.

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