[Research] Promising treatment of Autism with related epilepsy with amino acid supplement

[KarenB]

http://ucsdnews.ucsd.edu/pressrelea...promise_in_treatment_of_unique_form_of_autism

 

[Bernard]

... Using a technique called exome sequencing, the UC San Diego and Yale scientists found that a gene mutation present in some patients with autism speeds up metabolism of certain amino acids. These patients also suffer from epileptic seizures. The discovery may help physicians diagnose this particular form of autism earlier and treat sooner.

The researchers focused on a specific type of amino acid known as branched chain amino acids or BCAAs. BCAAs are not produced naturally in the human body and must be acquired through diet. During periods of starvation, humans have evolved a means to turn off the metabolism of these amino acids. It is this ability to shut down that metabolic activity that researchers have found to be defective in some autism patients.

“It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism,” said senior author Joseph G. Gleeson, MD, professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator. “What was most exciting was that the potential treatment is obvious and simple: Just give affected patients the naturally occurring amino acids their bodies lack.”
...
Using a nutritional supplement purchased at a health food store at a specific dose, the scientists reported that they could correct BCAA levels in the study patients with no ill effect. The next step, said Gleeson, is to determine if the supplement helps reduce the symptoms of epilepsy and/or autism in humans.
...

Nice find. I don't have a subscription, but the source Science article can be found here:

http://www.sciencemag.org/content/early/2012/09/05/science.1224631.abstract

 

[Chaz1]

Nutritional supplement BCAA offers promise in treatment (autism/epilepsy)

http://epilepsyassociation.com/brea...-treatment-of-unique-form-of-autism-epilepsy/

 

[Janus]

Wow, that looks cool. But is it too good to be true? I am curious.

 

[LW6279]

I want one!

 

[KarenB]

Well, at this point in the research, it looks like the supplement corrects the amino acid deficiency, but still waiting on whether correcting the deficiency will help the autism and seizures. My guess (hope) is that it will, but it doesn't always work that way.

Also...this amino acid deficiency is probably rare.

But...I do SOOO like research that gets to the source of the problem, rather than treating symptoms. Taking seizure meds to smother the seizures without finding and treating the cause of the seizures is like taking a painkiller for a toothache.

 

[paolomainardi]

BCAAs (val, Ile, leu) and tyr, phe and trp compete all for the same BBB carrier. All of them are named large neutral amino acids (LNAAs).
Due to the competition the amount of each amino acid (x) able to be uptaked by the brain depends on the plasmatic ratio x/LNAAs, where x is the concentration of one amino acid, LNAAs is the sum of the concentrations of all LNAAs, x inclused. For example the ability of trp to be uptaked depends on trp/LNAAs. On the basis of this plasmatic ratio I was able to evaluate a 1/3 reduction in trp brain uptake rate in epileptic patients versus controls. The synthesis of brain serotonin depends on the amount of trp uptaked in the brain, then the plasmatic trp/LNAAs ratio is an indirect measure of the available of serotonin in the brain. All LNAAs levels are decreased in epileptic patients respect controls. When in 80s I started to determine LNAAs plasmatic level I begin with my plasma, then those of epileptic patients. I was working on TDM of epilepsy, I had a lot of blood samples. The HPLC was working in the night and when I arrived in my lab the next morning I saw the chromatographic profile of plasma of a epileptic patients. To separe all amino acids, is not so easy, it was performing this analysis on standard solution and on my plasma from several months. I known very well chromatographic profile. The profile of LNAAs were so low that I thing my HPLC had a fault. However in terms of plasmatic ratio only met and trp are lower than controls. In autism, instead, LNAAs are higher than in controls, but there are not big differences as plasmatic ratio. trp/LNAAs, tyr/LNAAS and Phe/LNAAs are the same than in controls, while BCAAs are 1.3-1.4 time greater in autism than in controls. In marple syrup urine disease, trp/lnaas, tyr/lnaas and phe/lnaas are very lower than in controls, while BCAAs ratio are very high. val/LNAAs is 3 tiemd thanin controls, Ile is 9 times and leu is 30 times than in controls.

 

[Bernard]

So it would appear that this BCAA research is related in some respect to the research that you were doing on trp/LNAA and ALAC.