March 17, 2015
Dear friends,
We're happy to share the 2nd issue of the Autism BrainNet Newsletter with you. A number of fascinating findings have been published in the past few months that utilized donated brain tissue. Without this resource, progress would just not be possible. We'll summarize a few of those studies in this issue. Requests from researchers for tissue have increased dramatically since Autism BrainNet was announced last May. Unfortunately, most of these requests cannot be honored due to lack of donated brain tissue. We ask you to be our ambassadors and spread the word about the need for tissue. Please contact us if you have an idea about informing the community about Autism BrainNet. Also, encourage your friends and colleagues to sign up for more information at TakesBrains.org.
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NEW TREATMENT POSSIBILITIES
THANKS TO AUTISM BRAINNET
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Stained images of dendrites. The black and white photos are taken from a person without autism (top) and with autism (bottom). Note more dendritic spines on the neurons of those affected with ASD.
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Scientists in New York(1)
have found an increased number of dendritic spines (the places where excitatory connections are made between one neuron and the next) in the cerebral cortex of individuals who had autism. They also found that there was a deficit in an enzyme system called mTOR that usually regulates the number of spines in the brain. They turned these findings into an animal model with disruptions in the mTOR system and were able to replicate some of the findings found in human tissue. Most importantly, administration of a drug called rapamycin both corrected the number of dendritic spines and improved social behavior. Research that begins with the study of human brain tissue can lead to innovative treatments for certain types of autism.
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A NEW PATHWAY IDENTIFIED
Science is often the result of many findings that build upon each other. Research at the Allen Brain Institute and at Yale University on the postmortem brain has identified several genes that play an important role in the development of the brain. Researchers are now using these findings to identify specific brain cells and their connections that may explain some symptoms of ASD. For example, late last year a group of researchers from across the country was able to describe brain circuits affected in ASD using only computational approaches(2). That is, they used information gathered as part of another study that compared genes associated with ASD to those found to be expressed in different brain cells. Mutations in the genes that were found in the brain were associated with more severe autism behaviors and lower IQ. Many scientists believe that the real causes of autism may not be found until the genetics of brain development and their alterations in autism are understood. Postmortem donations of brain tissue make this critical research possible.
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BRAIN RESEARCH UNCOVERS
LINKS TO THE IMMUNE SYSTEM
A new study (3) which utilized brain tissue provided by Autism BrainNet and led by Dr. Dan Arking at Johns Hopkins found that a type of immune cell called microglia was always active, with genes for inflammation always turned on in the brains of individuals with autism. Arking noted that he did not think that the inflammation itself was the root cause of autism, but that it is a marker of a pathological process. Changes in microglia in brains from autistic individuals were first identified in 2005 by studying post-mortem brain tissue. (4).
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| Gene expression patterns in brain tissue. |
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| Microglial cells in brain tissue of someone with autism. |
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WHY
BRAIN RESEARCH IS CRUCIAL FOR AUTISM
By Karl Wittig
In order to understand more about autism, scientists need tissue samples from autistic brains to examine and hopefully make discoveries in the future that will
benefit everyone on the autism spectrum. The brain contains a wide variety of
neurons, which connect with each other in different ways, to form the various structures that constitute the human brain. Autism researchers need to study these neurons, connections, and structures if they are to better understand the nature and causes of autism. There is no substitute for real specimens, and computer images and models are only representations, not the real thing. Unfortunately, not enough brain tissue from autistics and their families is available to them, and there is a great need for more. This is where Autism BrainNet comes in - it encourages those on the autism spectrum to make their brain tissue available for research purposes after their deaths.
Registration is simple - you just need to sign up on
TakesBrains.org, as Alex Plank and I have done, along with many others on the autism spectrum. That's all there is to it. I am not planning for my brain to be available for some time, but would like to see it put to good use when the time does come. I may be on the autism spectrum, but I am also a physicist and engineer who worked in scientific laboratories for many years, so I can especially appreciate the importance of this research.
Karl Wittig is an autism advocate and public speaker. He serves on the board of GRASP (Global and Regional Asperger Syndrome Partnership).
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NEW AUTISM BRAINNET AD
FEATURES AUTISM ADVOCATE ALEX PLANK
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1. Tang G, Gudsnuk K, Kuo SH, Cotrina ML, Rosoklija G, Sosunov A, Sonders MS, Kanter E, Castagna C, Yamamoto A, Yue Z, Arancio O, Peterson BS, Champagne F, Dwork AJ, Goldman J, Sulzer D. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron. 2014;83(5):1131-43. doi: 10.1016/j.neuron.2014.07.040. PubMed PMID: 25155956; PubMed Central PMCID: PMC4159743.
2. Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D. Genotype to phenotype relationships in autism spectrum disorders. Nature neuroscience. 2015;18(2):191-8. doi: 10.1038/nn.3907. PubMed PMID: 25531569.
3. Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nature communications. 2014;5:5748. doi: 10.1038/ncomms6748. PubMed PMID: 25494366; PubMed Central PMCID: PMC4270294.
4. Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Annals of neurology. 2005;57(1):67-81. doi: 10.1002/ana.20315. PubMed PMID: 15546155.
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