Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis
Valerie W. Hu1*, AnhThu Nguyen1, Kyung Soon Kim1¤, Mara E. Steinberg1, Tewarit Sarachana1, Michele A. Scully1, Steven J. Soldin2, Truong Luu3, Norman H. Lee3
Department of Biochemistry and Molecular Biology, The George Washington University Medical Center, Washington, D. C., United States of America,
Despite the identification of numerous autism susceptibility genes, the pathobiology of autism remains unknown. The present “case-control” study takes a global approach to understanding the molecular basis of autism spectrum disorders based upon large-scale gene expression profiling. DNA microarray analyses were conducted on lymphoblastoid cell lines from over 20 sib pairs in which one sibling had a diagnosis of autism and the other was not affected in order to identify biochemical and signaling pathways which are differentially regulated in cells from autistic and nonautistic siblings. Bioinformatics and gene ontological analyses of the data implicate genes which are involved in nervous system development, inflammation, and cytoskeletal organization, in addition to genes which may be relevant to gastrointestinal or other physiological symptoms often associated with autism.
"Preliminary metabolic profiling of steroid hormones in lymphoblastoid cell lines from several pairs of siblings reveals higher levels of testosterone in the autistic sibling, which is consistent with the increased expression of two genes involved in the steroidogenesis pathway.
Moreover, the data further suggests that these processes may be modulated by cholesterol/steroid metabolism, especially at the level of androgenic hormones. Elevation of male hormones, in turn, has been suggested as a possible factor influencing susceptibility to autism, which affects ~4 times as many males as females. Preliminary metabolic profiling of steroid hormones in lymphoblastoid cell lines from several pairs of siblings reveals higher levels of testosterone in the autistic sibling, which is consistent with the increased expression of two genes involved in the steroidogenesis pathway. Global gene expression profiling of cultured cells from ASD probands thus serves as a window to underlying metabolic and signaling deficits that may be relevant to the pathobiology of autism.
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Grandparents key for autistic children
About one-third of U.S. grandparents of a child with Autism Spectrum Disorders say they were first to raise concerns, a survey indicates.
The Interactive Autism Network, an online autism research project, collected information from more than 2,600 grandparents of children with Autism Spectrum Disorders. The survey found about 11 percent reported living in the same household as their grandchild with Autism Spectrum Disorders and another 46 percent live within 24 miles.
"71 percent said they played some role in treatment decisions
"It became clear that grandparents -- a population largely overlooked by policymakers and researchers -- had valuable insights to share when they came to us asking how they could participate in the IAN Project," Dr. Paul Law, director of the IAN Project at the Kennedy Krieger Institute in Baltimore, says in a statement. "Grandparents often play a major part in their grandchild's life and experience their own stresses and triumphs in these families."
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Help Wanted: FDA Advisors, No Expertise Needed
by Josie Raymond
Economic recovery may be slow, but somebody's hiring: the FDA.
NPR reports that the FDA is looking for consumer representatives to serve on some of the 48 advisory committees that make recommendations about what's ready to go to market.
"According to NPR, the advisory committees are made up of 10 or 20 people who meet once or a few times a year.
Strangely, the agency made a point of noting that prospective reps don't have to be doctors or scientists — they don't need any particular qualifications at all, provided they are involved with community or consumer groups. (There are also openings for academician and practitioner representatives with, you know, expertise.)
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Caldwell College autism program receives $1M federal funding to build center
By Victoria St. Martin/The Star-Ledger
When one of Jenny Bar-Yaacov’s 10-year-old twins darted into the middle of traffic on a street not far from her Maplewood home, no one had to tell her that her child’s autism was to blame.
Shortly after her twins were diagnosed, Bar-Yaacov began studying how the condition — which affects more children in New Jersey than in any other state — grips children and puzzles their parents. Her research gave her answers, and the work of educators gave her hope.
""My son is a thriving child," said Keith. "He is eating and learning skills — they taught him how to live again."
Now, some of those same educators Bar Yaacov turned to are getting help themselves in the form of a center.
Educators at Caldwell College, which has a doctoral program for autism education, have received federal funding to build a center to serve children with autism and their families.
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Curt & Shonda Schilling Open Up About Son's Asperger's Diagnosis
Curt Schilling spent 20 years on the mound facing some of Major League Baseball’s toughest hitters. During those two decades, his teams won three World Series, including one in 2004, when he famously wore a bloody sock to help bring the Boston Red Sox their first championship title in 86 years.
But nothing in all those years could help prepare Curt and his wife, Shonda, for the challenges they would face raising their four children. Shonda details their struggles in a new book, “The Best Kind of Different: Our Family’s Journey with Asperger’s Syndrome,” which focuses on the diagnosis of their son Grant and how it changed them as a family.
"Instead of dwelling on the diagnosis and asking ‘why us,’ the Schillings forged ahead and focused on Grant’s treatment. And even though it’s been three years since the diagnosis, Curt and Shonda admit they still don’t know what to expect from one day to the next.
“You go through different stages,” Shonda Schilling told FoxNews.com. “You mourn the child that you thought you would have. You’re sad because you’re afraid of the future and you feel guilty. You feel guilty because you’ve just spent the first seven years of his life yelling at him when he had no idea why you were yelling at him.”
Grant, who is now 10 years old, was diagnosed at the age of 7. At the time, Curt was on the road with the Red Sox and Shonda was at home, doing most of the child-rearing by herself.
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