Scientists Successfully Reverse Autistic Disorder in Mice

I just happened to be flipping through the pages of my feed reader tonight and I ran across a short blip at Slashdot that caught my attention. According to a report published by the Rett Syndrome Research Foundation (RSRF), scientists were able to not only halt the worsening of symptoms in autistic mice, but were actually able to cure the mice of the disease.

Rett Syndrome is one of the numerous diseases in the autistic spectrum of disorders. In fact, it’s typically the most physically disabling of the autism disorders. For many sufferers, autism is a predominantly cognitive disorder. While tremors and other physical symptoms can accompany any autistic disorder, Rett Syndrome (RTT) is a far more physical variation of the disorder.

From the RSRF report:

Caused by mutations in the gene MECP2, RTT affects primarily girls, striking at random in early childhood and destroying speech, normal movement and functional hand use. Many children become wheelchair bound; those who walk display an abnormal, stiff-legged gait. Disordered breathing patterns and Parkinson-like tremors are common.

Researchers at the University of Edinburgh, in a study funded by the RSRF, the Wellcome Trust, and the Rett Syndrome U.K./Jeans for Genes, introduced MECP2 to disordered mice, halfway expecting nothing to happen. They assumed that since the initial neurological damage developed early in the mice’s life cycle, the effects were permanent and irreversible. MECP2 is thought to be a regulatory gene (it controls the on and off switches of other genes). MECP2 might be the gene in question, but scientists didn’t directly introduce it back into the mice’s brains. Instead, they administered a drug that caused an enzyme to be created. That enzyme, in turn, triggered another change in the brain that caused the MECP2 protein to be built.

Restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.

As an added bonus, the experiment also caused an increase in the ability of mice’s neurons to respond to stimulation (also called LTP). According to the report, the activity recorded by this measurement of stimulation is thought by many to be the basis for learning and memory. The LTP was completely defective in the disordered mice. After the treatment, however, it had been restored to a normal level of functioning.

While the treatment of mice and the treatment of humans is a completely different thing, the research is a huge step forward in the treatment of many autistic disorders. Some forms of schizophrenia are even linked to the same disorders that cause autism. There hasn’t been a neurological or psychiatric discovery of this magnitude in a long time. It’s very exciting news.

Congratulations to the researchers who conducted the studies! And here’s to hoping the newly found information can help in the creation of better and more effective treatments for neurological disorders of all kinds.

4 Comments

  1. do you think the mice are happier now?
    Best wishes

    Posted February 8, 2007 at 9:45 pm | Permalink
  2. Probably not. Mice used in lab experiments don’t typically live charmed lives. :)

    Posted February 8, 2007 at 9:52 pm | Permalink
  3. Patrick

    I could care less about the mice. They must be used to find a cure. RS is the most vile and cruel disease known to afflict humans. My daughter has Rett Syndrome.

    Posted February 8, 2007 at 10:13 pm | Permalink
  4. I couldn’t agree more. And I think that’s the point of this good news. The knowledge gained from this study can be used to develop new treatments for the disease in humans.

    Posted February 8, 2007 at 10:16 pm | Permalink

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