Genetic mutations at conception linked to many cases of autism

But are the mutations related to autism? There doesn’t seem to be any evidence of that, here.

Genetic mutations at conception linked to many cases of autism

About 15 percent of autism cases in families with a single autistic child are associated with spontaneous mutations that occur in sex cells, Yale University researchers report in the April 4 issue of the journal Nature.

The findings are the result of DNA sequencing of every gene in 238 families, each with only one autistic child — the most sophisticated analysis yet of the genetic links to autism. The study identified hundreds of such de novo or spontaneous sequence variations, and as more are discovered, medical science may find new ways to intervene in the disabling disorder, the authors say.

The Yale team, in cooperation with researchers at Carnegie Mellon University, the University of Pittsburgh and UCLA, also linked variations in three specific genes to a markedly increased risk for autism.

“Prior to the advent of new DNA sequencing technology, we were largely wandering in the dark searching for autism genes,” said Matthew State, senior author, the Donald J. Cohen Professor of Child Psychiatry, psychiatry and genetics, and co-director of the Yale Program on Neurogenetics. “Now we are getting a clear view of the genetic landscape and finally have the tools in hand to find a large proportion of the many genes contributing to autism.”

The genetic underpinnings of autism have been the subject of intensive research. Twin studies reveal a strong genetic component to autism but a substantial number of cases occur in families with no known history. Recent research has focused on genetic mutations that may arise at conception.

The new Yale study also showed that these de novo mutations were more frequent in children born to older fathers, offering at least a partial explanation for the increased risk for autism in children of older parents.

The researchers expect that, with additional DNA studies, the percentage of autism cases linked to these de novo mutations will increase—and with it the ability to detect and treat the disorder.

“With every new gene we discover, we learn more about potential treatments for patients with autism,” said Stephan Sanders, pediatrician, a postdoctoral fellow in State’s lab and lead author of the Nature paper.

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The study was funded by the Simons Foundation.

Other Yale researchers include Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Nicholas M. DiLullo, Michael F. Walker, Gordon T. Ober, Youeun Song, Paul El-Fishawy, Ryan C. Murtha, Murim Choi, John D. Overton, Robert D. Bjornson, Nicholas J. Carriero, Kyle A. Meyer, Kaya Bilguvar, Shrikant M. Mane, Nenad Šestan, Richard P. Lifton, and Murat Günel.

3 thoughts on “Genetic mutations at conception linked to many cases of autism”

  1. You may want to take a closer look at vitamin D deficiency… your body converts it into a powerful steroid hormone called Calcitrol which acts as DNA repair and maintenance hormone. It is crucial for proper brain development in the womb. There’s a study that autistic kids and their mothers have very low vitamin D level.

    http://www.vitamindcouncil.org/health-conditions/neurological-conditions/autism/

    Remember sun scare? It happens to mirror the rise of autism and we now have a widespread vitamin D deficiency. Latest studies show that we need a lot more vitamin D (4,000-6,000 IU a day) than what is currently recommended (600 IU a day).

    And it works very well for cold and flu prevention too.

  2. The strictly medical-model people are often dismissive of vitamins, even though a big play nowadays is pharmacuetical houses buying-up vitamin firms so they can scale-up the pricing, increasing their profits. However, it COULD be due to a vitamin deficiency. Also, there are a lot of pollutants that may have neural deficiency results. Bromine is in commercial and most at home flours, but baking Should eliminate hurtful residues. There are a few brands that are not bromated, and I use those for stuff made at home. There could be sprayed-compounds that are used to knock CO2 out of the atmosphere, which is why I think CO2 should NOT be considered a green-house gas. I personally don’t think it is, but the chemicals used to combine with it, might be worse than the CO2. The RDA on vitamins is very deficient, having been established to maintain, a 30yr old sendentary male, alive, in a prison cell. If you’re not sitting in a prison cell and am older than 30, the RDAs should be be much higher, –check with your Naturalpathic physician, for specifics.

  3. “But are the mutations related to autism? There doesn’t seem to be any evidence of that, here.”

    Did you read the Article Steven Milloy????? Actually there are 2 articles in that issue regarding this. The fact this isn’t mentioned makes me very suspicious that you didn’t even read the table of contents let alone the aricle.

    What do you base your criticism of science on when you don’t actually read it?

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