New autism research: a nutrient called carnitine might counteract gene mutations linked with ASD risks

Autism spectrum disorders (ASDs) affect about one percent of the world’s population. In the United States alone, about 1 in 68 children are on the spectrum, and between 40 and 60 percent of them are also diagnosed with some degree of intellectual disability.

The annual cost associated with ASD in the United States is high – presently estimated to be US$236-$262 billion. If diagnoses continue to grow at the current pace, it will exceed $460 billion by 2025, more than the total cost of diabetes.

Scientists still aren’t sure what causes ASD, but evidence suggests it’s probably the result of complex interactions between genetic and environmental factors that affect brain development. So far hundreds of genes whose mutations are associated with ASD have been identified. Many of them are known or predicted to play critical roles in the cells that make up the building blocks of the brain.

Learning more about these genes – and their mutations – might help us understand some of the root causes of ASD, and perhaps find ways to lower the risk that a child will have it.

We decided to take a closer look at mutations in one of these genes, called TMLHE, which is required for a critical chemical reaction that lets cells burn fat molecules to produce energy. We wanted to understand how a TMLHE mutation could increase autism risk and whether we could counteract the effect of the mutation.


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