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Amino-acid deficiency underlies rare form of autism
NATURE NEWS ^ | 06 September 2012 | Ewen Callaway

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 don’t 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 ...

TOPICS: Culture/Society; News/Current Events
KEYWORDS: aminoacids; autism; bckdkinase; genetics

1 posted on 09/06/2012 10:40:27 PM PDT by neverdem
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To: Incorrigible


2 posted on 09/06/2012 10:44:40 PM PDT by neverdem (Xin loi min oi)
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To: neverdem
leucine, isoleucine and valine after a meal.

"Peanut Butter."

"I like peanut butter."

"You Like peanut Butter Too."

"So Easy to Chew."

And it's Good for You."

3 posted on 09/06/2012 11:08:06 PM PDT by Rudder
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To: neverdem
Gleeson says, the “patients did not get any worse and their parents say they got better, but it’s anecdotal”.

Interesting article, but those results sound less than dramatic.

4 posted on 09/06/2012 11:08:11 PM PDT by TChad
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To: El Gato; Ernest_at_the_Beach; Robert A. Cook, PE; lepton; LadyDoc; jb6; tiamat; PGalt; Dianna; ...
Soil May Be Source of Drug-Resistant Bacteria

University of Cape Town Researchers Believe They Have Found a Single Dose Cure for Malaria

The Hidden Truths about Calories

Human Genome Is Much More Than Just Genes

FReepmail me if you want on or off my health and science ping list.

5 posted on 09/06/2012 11:38:18 PM PDT by neverdem (Xin loi min oi)
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To: neverdem

bookmark for later. Thanks.

6 posted on 09/07/2012 3:42:22 AM PDT by Hoodat ("As for God, His way is perfect" - Psalm 18:30)
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To: Rudder

>>”Peanut Butter.”<<

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. “

7 posted on 09/07/2012 4:19:23 AM PDT by netmilsmom (Romney scares me. Obama is the freaking nightmare that is so bad you are afraid to go back to sleep)
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To: netmilsmom

Meat and nuts ~ the central part of the diet of your basic hunter/gatherer!

8 posted on 09/07/2012 4:28:03 AM PDT by muawiyah
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