Mice Cured of Autism

noahisaac writes "My brother just sent me an article he posted for the Rett Syndrome Research Foundation about a cure for Rett Syndrome, a form of autism. According to the article, researchers successfully re-introduced a fully functional version of the MECP2 gene into mice that had been born with damaged MECP2 genes. Contrary to their expectations, the mice improved. In the article's words, '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.' The ramifications for people suffering from Rett Syndrome are obvious, but mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders."

Girls only

[Marxist Hacker 42]

Men, apparently, need not apply- these specific behaviors are female symptoms mostly. I wonder, though- is this the cause of the difference between heavy metal poisoning causing autism and genetics causing autism?

From TFA: * Rett Syndrome (RTT) is a severe childhood neurological disorder, diagnosed almost exclusively in girls. The most physically disabling of the autism spectrum disorders, RTT strikes at random, affecting an estimated 1 in every 10,000 females.
* First symptoms usually appear between 6 to 18 months of age. Development slows or begins to regress. Children at this stage may exhibit the social withdrawal often seen in autism, or cry inconsolably for months as previously acquired language and motor skills disappear. In classic RTT, this regression is accompanied by the onset of constant, compulsive hand wringing and the loss of all functional hand use. The progression of symptoms varies across the RTT spectrum. Many children become wheelchair bound; those who walk display an abnormal stiff-legged gait.
* As the disease progresses, abnormal voluntary and involuntary movements reflect increasing neurological deficits. The children suffer apraxia, the inability to organize voluntary movement. Parkinson-like tremors are common, as are disordered breathing patterns and problems with chewing and swallowing. Some children require feeding tubes or supplementary oxygen. Abnormal brain wave patterns are present in RTT; a percentage of the children experience seizures.
* The only autism spectrum disorder with a known genetic cause, RTT results from mutations in the gene MECP2. This gene was first discovered by Adrian Bird, Ph.D in 1990. MECP2 regulates the expression of other genes by turning them off at the appropriate time.
* Mutations in MECP2 were identified as the cause of RTT in 1999 in the lab of Huda Zoghbi, M.D. MECP2 mutations are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities.

Watch your words

[Raindance]

MECP2 as "the cause" of autism is overblown-- scientists have isolated several genetic areas that are somewhat probable contributors toward developing autism, but
1. Autism is definitely caused by the contributions of many genes;
2. There are various ways autism presents itself- presumably due to varying genetic contributions. Rett Syndrome is (in my understanding) an atypically (genetically) simple form of autism.

wait a minute!!!

[neo8750]

"Rett Syndrome was first recognized by Andreas Rett in 1966 and is a neurological disorder affecting primarily females. Autopsies on the brains of these individuals indicate a pathology different than autism; however, children afflicted with Rett Syndrome often exhibit autistic-like behaviors, such as repetitive hand movements, prolonged toe walking, body rocking, and sleep problems."

Here [autism.org] is the source of this info.

Re:Girls only

[samkass]

is this the cause of the difference between heavy metal poisoning causing autism and genetics causing autism

It's not been shown that heavy metal poisoning causes autism. Poisoning with lead or mercury can have neurological symptoms that are similar to autism, but removing the heavy metal and flushing it from the body causes rapid improvement in the poisoning patients, while autism has no cure. The mistaken belief that they're the same thing led a lot of parents to stop immunizing, despite every single reproducible study showing no link between the mercury-based compound that used to be found in such immunizations and autism. To wit, autism continues to gradually become more common despite the fact that mercury has now been completely removed from childhood vaccines.

The only statistically significant environmental link found so far to the onset of true autism cases that I've seen was a study that showed that the rollout of cable television appeared to be correlated to a moderate rise in autism in the neighborhoods and time periods of the rollout during the 80's.

Re:Girls only

[swmpthng]

The reason why it's just girls is because the gene is carried on the X chromosome- therefore, girls can carry a functional copy on the other X chromosome, but most guys (not counting Klinefelter types) don't have that option. Males who inherit the bad X die in infancy. I'm guessing that people figured out their deceased baby boys had the RTT problem via genetic testing. See 'Gender and Rett Syndrome' here- http://en.wikipedia.org/wiki/Rett_syndrome [wikipedia.org] .

RETT!=autism.

[Anonymous Coward]

Actually Rett syndrome is a pervasive developmental disorder, not a form of autism. They are both pervasive developmental disorders, however, Rett syndrome does not fit into the class of Autistic Spectrum Disorders.

They share some sympotomatology... and that's about it.

Re:Slashdot is doomed

[SeekerDarksteel]

You drastically misunderstand what is meant by "lack of empathy." Most people have some degree of empathy. Maybe they won't care about someone they don't know, but when it comes down to their friends and family they care how they are feeling. They care if they are doing well. A person with Asperger's/Autism doesn't just lack empathy for strangers, they lack or have severely dampened empathy for all human beings, including their family and "friends." Empathy also means much more than a willingness to help others in need. It relates to the ability of a person to understand someone else's state of mind, someone else's feelings or beliefs. It is also closely related to something called theory of mind [wikipedia.org]which is, in short, the ability of a person to recognize that other human beings have their own separate minds. For someone deriding others for stating their opinions about Autism/Asperger's without sufficient knowledge, you seem to state your own uninformed viewpoint awfully strongly.

Re:Slashdot is doomed

[compro01]

speaking as someone who is diagnosed with it, though i do agree that most here don't have it, it is not trivial and is not a result of "burying one's none in a computer".

much of your normal social interaction isn't quite learned in the typical sense. it is ingrained rather deeply. you don't even notice all the things you pick up on someone, which is what i don't pick up on. not having those subtle cues that people assume you pick up on does make things very awkward in meeting people.

that isn't the only effect, but it is definitely one of the most noticeable ones.

Re:Girls only

[Odineye]

Kudos to you for pointing out the lack of any evidence of a link between heavy metal poisoning and autism. For the record, the television study you refer to showed absolutely no link between the viewing habits of children and autism. It was, in fact, a very shoddy study that extrapolated a link by correlating the time frame during which cable came out with the rise in autism by attempting to correlate the weather with television watching (assuming that higher rates of rainy weather meant that children were inside watching cable television). It contains no measurement of the television viewing habits of the children whatsoever. Further, there was no statistical significance, since it was a correlational study. Despite having only correlational data regarding the weather and the onset of cable television, they continued to refer in the text to the "trigger" effect of cable television. Further, it was not a peer reviewed study. Autism is part of my primary field of study. The Cable TV correlation report was one of the worst pieces of "research" I've ever read.

Multiply Determined

[Odineye]

Genetic studies are showing fairly clearly now that there is no single gene implicated in autism. When different people are tested, it shows involvement in multiple chromosomes, and in multiple different sites on the same chromosome in different people. There is considerably variability from one person to another. As others have mentioned above, Rett's is different in presentation and likely etiology than other forms of autism. This study likely has limited relevance to treatment of any form of autism other than Rett's.