An excerpt from the Vitamin D Council Newsletter by Dr. John Cannell

Most of us, including myself, have a primitive understanding of genetics. Genes are the things you inherit and pass down to your kids. Defects in those genes cause incurable diseases, if they don’t kill you outright. The defects, or mutations, are acquired over generations of genes being exposed to mutagens, like x-rays, toxins, etc. and are passed down the line. Right? In what may be a seminal paper (actually an editorial) in Nature, Dr. John Timmersays: hold on, not so fast.

It appears that many of those mutations occur during the lifetime of the person in question. That is, you may well have a genetic disease that you did not inherit.

Timmer, J. Schizophrenia: genes matter (even though inheritance might not). Nature Genetics. 2011.

That explains the genetics of autism very nicely, but I wish Dr. Timmer had taken the next step, the incurable step. The genetic defects he is talking about are often quite minor in comparison to what we have grown accustomed to think about, like an entire chromosome trisomy 21 in Down syndrome (Down’s syndrome in the U.K.). No set of genetic push-pull railroad repair cars are going to fix that one, it’s just too big.
However, a number of proteins exist whose entire purpose in life is to go along the genome, like a railroad car, detecting small genetic variations in one set of genes, and fix them, sometimes using the other set of genes as a template for normal. At least that’s how a forensic psychiatrist understands the process.

And guess who is in charge of these little locomotives? Guess who protects your genome from these genetic variations, guess who is “The Defender of the Genome”? You guessed it; it’s just another one of vitamin D’s repair and maintenance functions. I’m just putting this all together in my mind, as the stack of papers on my desk attests. I didn’t discover anything; dozens of scientists have been studying these genetic repair mechanisms for years, including vitamin D’s involvement. As I learn it, I will tell you about the scientists whose lifetime of work is about to become a little more public.

However, it now makes perfect sense to me how vitamin D can cure some genetic diseases, like autism. Once your body has enough vitamin D, all those little genetic repair train cars can chug happily along, fixing the multiple little genetic variations that are the most common genetic findings in autism. Yes, autism is a genetic disease, or rather; it is a disease of the genes.

Eapen V. Genetic basis of autism: is there a way forward? Curr Opin Psychiatry. 2011 May;24(3):226-36. Review.

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