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Cholesterol and Autism – Can Eggs In The Diet Save the Autistic Brain? Will SLOS Provide Clues To Autism?

Posted Apr 02 2011 7:27pm

Will it be the Mom’s and Dad’s with children with autism who will finally help educate the public on how serious cholesterol is when it comes to brain function in children?

This week researchers at The Ohio State University Medical Center announced they are studying whether a simple nutritional intervention – adding cholesterol to the diets of children with autism spectrum disorders after a test to see if they need it – can improve core autism symptoms. These studies are being led by Dr. L. Eugene Arnold, a child psychiatrist at Ohio State’s Nisonger Center who specializes in researching and treating autism.

According to the article, Arnold is teaming up with Dr. Elaine Tierney of Johns Hopkins University/Kennedy Krieger Institute and Dr. Forbes D. Porter of  the National Institutes of Health to conduct a phase I/II double-blind study for children ages 4-11 who have been diagnosed with autism spectrum disorders: autistic disorder, Asperger’s disorder, or pervasive developmental disorder – not otherwise specified (PDD-NOS).

60 children who are found to have abnormally low cholesterol will participate in a 12-week double-blind study in which they will be fed cholesterol …. or a placebo … to see in increasing dietary cholesterol has an impact on brain function.

I first heard about the role of cholesterol in autism from Dr. Porter a few years ago. Unfortunately, I was at the NIH for a week long visit with my identical twins, Addi and Cassi, who are suffering from a fatal brain disorder called Niemann Pick Type C.  Addi and Cassi have a genetic cholesterol defect on chromosome 18 and don’t process any cholesterol in their cells.  As a result this causes a “childhood Alzheimer’s” type of condition.  My twins appear to make cholesterol fine but cholesterol gets stuck inside their brain cells, destroying their neurons, and causing this fatal condition.

During my visit, I was taking with Dr. Porter about dietary cholesterol concerns I had with the twins and that I put my twins on a low cholesterol diet.  Dr. Porter mentioned a genetic cholesterol condition called SLOS or Smith-Lemli-Opitz syndrome. SLOS is a metabolic disorder caused by a genetic mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol.  Dr. Porter treats both NPC and SLOS kids and explained that SLOS kids have a high degree of autism and many SLOS kids with low levels of cholesterol.

I have heard from Dr. James Hildreth, a leading HIV-AIDS researcher I know,  that the expression of a key transcription factor could be disrupted in both NPC and Autism.  Dr. Hildreth has established a connection between Niemann Pick Type C and  HIV.  Basically cells affected by Niemann Pick Type C, which have the disrupted cholesterol trafficking I mentioned, were unable to release HIV, suggesting NPC cells would not spread the virus.  As it turns out, cholesterol is somehow essential to HIV because HIV relies on specialized structures known as lipid rafts, which are rich in cholesterol, to infect new cells.  Maybe this transcription factor is another key to the puzzle?

I hope this simple nutritional intervention of adding cholesterol into the diet has a positive effect on some of these kids’ brain function.  But if I was in the Autism Community, I wouldn’t be putting all my eggs in one basket just yet.

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