Friday, April 15, 2016

Nutrient called carnitine might counteract gene mutations linked with ASD risks

Autism spectrum disorder (ASD) is the name give for a group of developmental disorders. ASD includes a wide range of symptoms and different levels of disability. People with ASD often display characteristics of ongoing social problems that include difficulty communicating and interacting with others along with repetitive behaviors as well as limited interests or activities. About 1 in 68 children in the United States along are affected with some degree of ASD, and the annual cost associated with ASD has been estimated to be around $250 billion per year.

Scientists aren’t sure what causes ASD, but there is evidence that suggests it’s the result of complex interactions between genetic and environmental factors that affect brain development. Hundreds of genes whose mutations are associated with ASD have been identified, and many are known or are predicted to play critical roles in the cells that make up the building blocks of the brain. The one gene this the scientists were looking at in this article was the gene TMLHE which  is required for a critical chemical reaction that lets cells burn fat molecules to produce energy.

The scientist studied effect of TMLHE mutations in mice to see if TMLHE mutation could increase autism risk and if they could counteract the effect of the mutation. It was found that the mutations affected neural stem cells during early stages of brain development. TMLHE mutations make it difficult for neural stem cells to produce energy by processing fat molecules. 

 A nutrient called carnitine helps transport fat to these parts of the cell, but the TMLHE gene is required for carnitine synthesis, so a mutation in this gene can lead to carnitine deficiency. By adding carnitine to the mutated TMLHE cells it can restore their ability to burn fat into energy and restore proper cell division behavior. "Our research raises the possibility that the increased autism risk associated with TMLHE mutations might be effectively managed by making sure the embryo has enough carnitine during critical stages for brain development. It also seems that sufficient carnitine is required at very early stages of pregnancy – far earlier than previously suspected." (Bankaitis)

The high incidence of TMLHE mutations in human beings (1 in 350) suggests the impact of carnitine deficiency on ASD risk has been severely underestimated. This is very interesting given that diet could be a contributing factor to some ASD associated with TMLHE mutations.

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