Symptoms of Fragile X Reversed in Mice
A way to “reverse symptoms of mental retardation and autism in mice” has been discovered by scientists at the Picower Institute for Learning and Memory at Massachusetts Institute of Technology (MIT), the June 25th Forbes reports. The scientists genetically manipulated the mice to have Fragile X Syndrome, which (according to the National Fragile X Foundation) is a “family of genetic conditions…… all caused by gene changes in the same gene, called the FMR1 gene.” For between 2% and 6% of children diagnosed with autism, the Fragile X gene mutation is the cause.
By inhibiting a brain enzyme, p21-activated kinase, or PAK (which “affects the number, size and shape of connections between neurons and the brain”), the scientists found that the “brain abnormalities in the FXS mice were reversed.”
“Strikingly, PAK inhibition also restored electrical communication between neurons in the brains of the FXS mice, correcting their behavioral abnormalities in the process,” co-author Susumu Tonegawa, 1987 Nobel laureate and Picower Professor of Biology and Neuroscience, said in a prepared statement.
Tonegawa said that there are known chemical compounds that can inhibit the activity of PAK, which is something that may be useful in developing drugs to treat FXS.
The FXS mice showed abnormalities similar to those in FXS patients, including hyperactivity, purposelessness, repetitive movements, attention deficits, and difficulty with learning and memory.
These findings were reported in the June 25-29 online early edition of the Proceedings of the National Academy of Sciences.
But is “autism” in mice the same as it is in humans? What is “purposelessness” or an “attention deficit” in mice?
Matthew K. Belmonte—-whose letter to the New York Times I quoted from earlier today—-has written about the difference and intersections of autism and Fragile X.
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POSTED IN: Fragile X, Genetics, Neuroscience, Science
10 opinions for Symptoms of Fragile X Reversed in Mice
Harold L Doherty
Jun 26, 2007 at 4:48 am
“But is “autism” in mice the same as it is in humans?”
None of the study authors suggested that to be the case. With your educational background I am sure you have heard of studies being performed on mice and other animals before being performed on human beings? Your comment is interesting but not a reason to detract from the merit of the study or this line of research.
Kristina Chew, PhD
Jun 26, 2007 at 8:46 am
I’ve asked it before in regard to other research on Rett’s Syndrome—this is Kassiane on the MEPC2 protein in mice.
Michelle Dawson
Jun 26, 2007 at 9:49 am
“We’re not going to develop a mouse with autism.”–Anthony Bailey in his keynote IMFAR 2007 presentation.
BlogMix: from Fragile X to PubMed « ScienceRoll
Jun 29, 2007 at 1:30 pm
[…] Symptoms of Fragile X Reversed in Mice (Autism Vox) A way to “reverse symptoms of mental retardation and autism in mice” has been discovered by scientists… But is “autism” in mice the same as it is in humans? What is “purposelessness” or an “attention deficit” in mice? […]
Lui
Jul 1, 2007 at 7:43 pm
“Is “cancer” in mice the same as it is in humans?”
“What is purposelessness in mice?”
I’m just thrilled that someone has discovered something worthwhile and scientific for a change. Autism has so many different symptoms that comparing the symptoms of autism in mice is similar to comparing the symptoms of autism in one autistic child to another.
I’ve seen Fragile X kids with autism and kids with autism not caused by Fragile X. Guess what? They look the same, or at least the same as any two kids with autism look.
Many kids with autism have Fragile X but are just never tested. Fragile X is not as rare as everyone believes and if there is a genuine treatment developed, down the line, for humans, as a result of this current research in mice, THIS IS A HUGE breakthrough for autism treatment.
I’m not sure why more kids aren’t tested for Fragile X, possibly insurance issues and the fact that it does put responsibility (genetically) on one parent as far as who the defective gene came from.
My child has never been tested but now I’m praying that his autism is caused by Fragile X because he now has hope for a cure someday.
A lot of people are walking around with, or carriers of Fragile X who have no idea that they have it. It causes many more problems than just MR and autism, as if that’s not enough.
As far as I’m concerned, this discovery is a miracle, if not for my child, but for so many people. Fragile X is not rare.
Kristina Chew, PhD
Jul 1, 2007 at 9:02 pm
Our son was tested for Fragile X as part of his evaluation for autism at a child development center; the evaluators indicated that they thought this unlikely.
Thoughts on Autism Research
Jul 2, 2007 at 11:26 am
[…] open to revision” and provides links to a number of blogs (including, I am grateful to note, this blog on Fragile X and mice.) And on the subject of “false dichotomies,” Genomicron notes that “nature versus […]
Fragile X, a “disorder of excess,” and a potential drug treatment
Dec 20, 2007 at 7:05 pm
[…] in June, scientists at the Picower Institute for Learning and Memory at the Massachusetts Institute of […]
A Pill to Induce Autism?
Feb 1, 2008 at 5:14 am
[…] have also, it is parenthetically noted, figured out how to “cure” autism (this study on reversing symptoms of autism and Fragile X is cited). Cure being a fighting word in discussions about autism, I’ll note that this […]
New Fragile X Gene Found
Feb 3, 2008 at 8:26 pm
[…] Research Institute. More than sixteen years ago, scientists linked Fragile X to another gene FMR1: When FMR1 gene expression is inactivated, there is a lack of a protein known as the fragile X […]
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