Skip to comments.Amino-acid deficiency underlies rare form of autism
Posted on 09/06/2012 10:40:17 PM PDT by neverdem
Genetic mutations in metabolic pathway could be fixed with nutritional supplement.
A rare, hereditary form of autism has been found and it may be treatable with protein supplements.
Genome sequencing of six children with autism has revealed mutations in a gene that stops several essential amino acids being depleted. Mice lacking this gene developed neurological problems related to autism that were reversed by dietary changes, a paper published today in Science shows1.
This might represent the first treatable form of autism, says Joseph Gleeson, a child neurologist at the University of California, San Diego, who led the study. That is both heartening to families with autism, and also I think revealing of the underlying mechanisms of autism.
He emphasizes, however, that the mutations are likely to account for only a very small proportion of autism cases. We dont anticipate this is going to have implications for patients in general with autism, says Gleeson. And there is as yet no proof that dietary supplements will help the six children, whose mutations the researchers identified by sequencing the exome the part of the genome that codes for proteins.
In the family The children came from three families with Middle Eastern ancestry; in each case the parents were first cousins. Studying such families makes the hunt for the rare recessive mutations underlying some forms of autism simpler than it would be among the general population, Gleeson says, because the odds are higher that children will be born with two copies of the recessive mutation.
In each family, Gleeson's team identified mutations that inactivate the enzyme BCKD-kinase, which normally prevents the body from breaking down branched-chain amino acids called leucine, isoleucine and valine after a meal. Humans cannot synthesize these amino acids and must obtain them from food.
We predicted that patients...
(Excerpt) Read more at nature.com ...
"I like peanut butter."
"You Like peanut Butter Too."
"So Easy to Chew."
And it's Good for You."
Interesting article, but those results sound less than dramatic.
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Wow! Wouldn’t it be wild if the source of peanut allergies and autism were the same thing?
“Natural sources of leucine include brown rice, beans, meat, nuts, soy flour, and whole wheat. “
Meat and nuts ~ the central part of the diet of your basic hunter/gatherer!
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