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Is autism is a disorder of fatty acid metabolism?


Fatty acids are molecules in our bodies that play vital roles in forming cell membranes, providing myelination, and maintaining homeostasis. They can be categorized into long chain fatty acids or very long chain fatty acids (VLCFA) depending on how many carbons are in the chain. In mammals, most VLCFAs are found in sphingolipids, which are primarily found in the central nervous system in neuron membranes.


An article in the Journal of Biochemistry has found that many inherited diseases are related to mutations in VLCFA- related genes. For instance, Stargardt disease, a genetic eye disorder that can lead to vision loss, is caused by a dominant gene that is also responsible for elongating fatty acids. Mutations in this gene ELOVL4 can cause inactivation of important proteins, and detrimentally impact the elongation of fatty acid chains.


Current research is investigating if autism is a disorder of fatty acid metabolism. A deficiency of an enzyme important for fatty acid metabolism is hypothesized to be one of the causes of ASD. More research is needed to understand the effects of VLCFA and the mechanism of fatty chain elongation on physiological effects.


References:

Kihara, A. (2012). Very long-chain fatty acids: elongation, physiology and related disorders. The journal of biochemistry, 152(5), 387-395.


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