There's some new research out by scientists at the Sanford-Burnham Medical Research Institute.
The reduced protein is SNX27. The article states,
Near-normal brain function can be restored in mouse models by increasing levels of this protein, called SNX27One of the researchers says,
"It's hard to say in humans (how much brain function can be repaired), but in those particular mice, the mouse model of Down syndrome, we were able to pretty much rescue all the pathology," according to cognitive tests given to the rodents, Xu said.The research showed the following,
Lack of SNX27 decreases the number of certain molecules on the surface of mouse neurons, the study found. These molecules, called glutamate receptors, are important for learning. Researchers studied brain samples collected after death from people with Down syndrome, and found lower levels of SNX27 than in control samples of those without the condition. In addition, neurons have abnormal dendrites, the long filaments that help transmit signals from cell to cell.
If the mouse model is a good guide, such therapy should work in children almost up until puberty.The mice were treated using gene therapy.
The mice were treated with gene therapy to deliver a human version of the gene that makes the SNX27 protein. A common virus was given the gene, then delivered to the mouse brains. Such an approach is now considered too risky for human use, Xu said, so researchers are looking for a drug that produces the same effect.The beginning of the article linked above states,
Moreover, the study points the way to a possible therapy to improve brain function in children with the genetic abnormality. No such therapy now exists.I would have to disagree with this. There is nutritional therapy that exists right now which improves brain function in children with Down syndrome. Namely Longvida Curcumin, Ginkgo Biloba and EGCG. Some families even use Prozac with their children with Down syndrome to improve brain function.
It would be nice if Down syndrome was easily "solved" with just one therapy. But, it's not. It's so complex, due to the triplicated chromosome, that so many different genes are "turned on," "turned off," underexpressed, overexpressed and so on. While I am excited for every new research find and every new possible therapy to help individuals with DS, it's a complicated puzzle. Ultimately, at this point, we have to use as many researched aspects of treatment as are available to us (which are safe), to address the concerns in Down syndrome. It's an every changing journey though and something that has to be looked at as a marathon, not a sprint.