Carnitine and Some Autism Protection

Studies have shown that an inherited gene, TMLHE, is required for biosynthesizing of carnation, and mutations within this gene have a strong association of risk for developing autism-spectrum disorders. At first, the association was unclear, but the latest findings show that a malfunction in the body’s ability to manufacture carnation might increase the risk of autism.

The deficiency of carnitine interferes with the process in neural stem cells that stimulate and organize normal fetal brain development. 

Assistant research scientist at the Texas A&M Health Science Center College of Medicine, Zhigang Xie, developed a new method to mark, follow and analyze individual neural stem cells inside a real developing brain. During the study, neural stem cells in the brain that didn’t produce carnitine, didn’t behave normally and were depleted from the developing brain, but when Xie and his colleagues supplied the needed carnitine, they found that the cells didn’t exhibit the same problem.

What exactly does this mean? Since the TMLHE gene is needed for the process of manufacturing carnitine, and carnitine is needed for transport of fatty acids into the mitochondria, which is the powerhouse that converts fats to energy and fuels fetal brain development, any mutation within the TMLHE will inhibit the ability for neural stems cells to properly function…unless they are supplemented with adequate amounts of carnitine.

The mutated gene is located on the X-chromosome, and testing mothers for this mutated gene may be the first step in preventing some forms of autism. A test would help determine if a prospective mother should supplement her diet with carnitine before and during her pregnancy to offset the insufficient supply, in the event she has the mutate TMLHE gene.

Although this method is not considered a fix for all cases of autism, only those associated with carnitine-deficiency, this gives some mothers a simple nutritional supplement that may reduce the risk of their child developing autism.

Where can you find carnitine if you have a deficiency? Carnitine is found in red meats and whole milk, as well as a supplement, but before you run off to your nearest health food store, be sure to check with your health care provider.

Sources: Cell Reports and Futurity