We're a little crazy, about science!

New and Exciting discoveries about Autism


Vaccines don’t cause autism. One more time, all together now, vaccines do not cause autism. Thankfully science understands that and is moving in on the actual cause for it. A combination of new studies not only shows a link between a particular gene and autistic disabilities [since it’s an autistic spectrum], but the second study offers a potential new pathway for treatment of the disorders.

Autistic-like behaviors and decreased cognitive ability may be associated with the disruption of a particular gene, in this case the APC gene [Adenomatous Polyposis Coli]. The connection was made when Tufts researchers deleted the gene from select neurons in the developing mouse brain. The mice developed all the autistic characteristics, such as reduced social behavior, increased repetitive behavior, and impaired learning and memory formation. This study is the first to look at how the loss of APC from nerve cells in the forebrain affects brain development, learning, and behavior.

In addition to observing autistic-like behaviors and cognitive impairments in the mice, researchers found significant molecular changes in the brain. Eliminating APC chiefly from the excitatory neurons in the forebrain led to altered levels of specific proteins that regulate gene expression and influenced the structure, number, and function of synapses. In other words the loss of APC caused visible change to the brain structures and how they operated.

Some of these molecular changes have not been seen in other genetic mouse models of cognitive and autistic-like disabilities, but are likely relevant to the human disorders based on recently identified risk genes. The researchers propose that APC tightly regulates particular protein levels, maintaining them within a range that is critical to normal learning and memory consolidation.

“What makes this study interesting is that although there are hundreds of risk genes implicated in autism, the removal of this single gene produced a multi-syndromic disorder similar to that seen in individuals with both cognitive deficits and autism. The APC-deficient mice are noticeably different from normal mice in their impaired learning, poor memory consolidation, repetitive behaviors, and reduced social interest,” said co-first author Jonathan Alexander, a Ph.D. candidate in neuroscience at the Sackler School of Graduate Biomedical Sciences at Tufts and a member of the Michele Jacob lab at Tufts University School of Medicine.

This study shows just how important APC is, as it regulates multiple signaling pathways within nerve cells that are essential for normal cognition and social behavior. The idea behind all this of course is to develop ways to identify these novel molecular and functional changes in patients. The end goal being to develop effective treatments in these particular cases [since different forms of autism are likely caused by different genetic changes].

But speaking of potential treatments [like how I did that?] further testing of a novel theory [Loony hint: I know I keep saying novel, for those who don’t know novel means unique or new in this context] suggests that autism is the consequence of abnormal cell communication. Researchers at the University of California, San Diego School of Medicine have shown that an almost century-old drug approved for treating sleeping sickness also restores normal cellular signaling in a mouse model of autism.

The drug reversed symptoms of the neurological disorder in animals that were the human biological age equivalent of 30 years old [amazing right?]. Dr. Naviaux, who is co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego, said one of the universal symptoms of autism is metabolic disturbances. “Cells have a halo of metabolites [small molecules involved in metabolism, the set of chemical processes that maintain life] and nucleotides surrounding them. These create a sort of chemical glow that broadcasts the state of health of the cell.”

The team focused on a cellular signaling system linked to both mitochondrial function and to the cell’s innate immune function. Specifically, they have zeroed in on the role of nucleotides like adenosine triphosphate (ATP) and other signaling mitokines  [which are just molecules generated by distressed mitochondria]. These mitokines have separate metabolic functions outside of the cell where they bind to and regulate receptors present on every cell of the body. Nineteen types of so-called purinergic receptors are known to be stimulated by these extracellular nucleotides, and the receptors are known to control a broad range of biological characteristics with relevance to autism, such as impaired language and social skills.

In their latest work, Dr. Naviaux again tested the effect of suramin, a well-known inhibitor of purinergic signaling that was first synthesized in 1916 and is used to treat trypanosomiasis or African sleeping sickness, a parasitic disease. They found that suramin blocked the extracellular signaling pathway used by ATP and other mitokines in a mouse model of autism spectrum disorder, ending the cell danger response and related inflammation. Cells subsequently began behaving normally and autism-like behaviors and metabolism in the mice were corrected.

There is a problem [of course], the drug can’t be taken long-term since it can result in anemia and adrenal gland dysfunction. After about five weeks the drug washed out of the system and the mice began showing symptoms once more. Not ideal by any means, but at the same time it’s a huge start and very excting.

The team says that there work does not contradict what others have discovered or done, this work just offered a different perspective. The idea is to eliminate a basic, underlying metabolic dysfunction, which will remove a hurdle that might make another non-drug behavior and developmental therapies more effective.

The discovery that a single dose of medicine can fundamentally reset metabolism for weeks means that newer and safer drugs might not need to be given chronically. Members of this new class of medicines might need to be given only intermittently during sensitive developmental windows to unblock metabolism and permit improved development in response to many kinds of behavioral and occupational therapies, and to natural play.

So once again, suck it anti-vaccination groups. If you invested that money into actual research we could be even further along than we are now. You should be disgusted with yourselves.

Want the full studies? You can find the first –here! And the second one —here!

Mohn, J., Alexander, J., Pirone, A., Palka, C., Lee, S., Mebane, L., Haydon, P., & Jacob, M. (2014). Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities Molecular Psychiatry DOI: 10.1038/mp.2014.61

Naviaux, J., Schuchbauer, M., Li, K., Wang, L., Risbrough, V., Powell, S., & Naviaux, R. (2014). Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy Translational Psychiatry, 4 (6) DOI: 10.1038/tp.2014.33

6 responses

  1. RachellieBellie

    Can I please shout this from the rooftops?

    June 18, 2014 at 8:04 pm

    • haha of course!

      June 18, 2014 at 8:13 pm

      • RachellieBellie

        Okay! ::Shouts from the rooftops, ticks off the neighbors:: LOL

        June 18, 2014 at 8:22 pm

      • maybe I should have put try at your own risk in there somewhere… 🙂

        June 18, 2014 at 8:27 pm

      • RachellieBellie

        It’s okay, nobody likes my neighbors anyhow 😛

        June 18, 2014 at 8:31 pm

  2. Pingback: Finally! A Definite Cause of Autism: Hint it isn’t Vaccines | Loony Labs

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