Autism Spectrum Disorders (ASD) are development disorders that cause impairment in thinking, feeling, and the ability to interact with others. People with ASD exhibit developmental impairments in varying degrees, which suggests that there are many contributing factors. Emerging evidence shows that ASD develops from a complex interaction of genetic and environmental factors such as nutrition and diet. Lipids are a diverse group of naturally occurring molecules that have many biological functions such as energy supply, building block of cell membranes, and signaling molecules. Lipids constitute 60% of the dry weight of the human brain, and over 20% are polyunsaturated fatty acids (PUFA), those that contain more than one double bond. Polyunsaturated fatty acids are crucial for the normal development of the nervous system and are important for overall brain health. Since ASD is characterized by developmental impairments, it is possible that ASD arises from a low level of essential fatty acids in the body, either from a diet insufficient in PUFA, or from abnormal lipid metabolism (turnover). We hypothesize that those with autism may have a lower level of PUFA due to abnormal lipid metabolism that breaks down fatty acids quicker than normal. It is possible that differences in the amount and type of fatty acids (fatty acid profiles) between autistic and nonautistic patients are associated with differences in genetics. We propose to conduct a large cohort study to determine whether the fatty acid profile of autistic patients is different from that of nonautistic individuals and if any changes in the profiles are associated with specific genes.
We will accomplish this goal by examining the fatty acid profiles of red blood cells from autistic and nonautistic patients using the leftover blood samples from clinical diagnostic laboratories. Next, whether there is a connection between different fatty acid profiles and certain genes will be determined. Secondly, the content of intermediates and products of lipid metabolism in the blood plasma of autistic and nonautistic patients will be determined.
The results generated by our research will tell us whether deficiency of essential fatty acids is a shared characteristic of ASD patients and whether it is due to abnormal lipid metabolism. In addition, our research will improve the understanding of whether lipid abnormalities in ASD patients are linked to certain genetic variations. These results may establish a future interventional trial that uses supplementation with polyunsaturated fatty acids to see if it can normalize lipid profiles and improve autistic behaviors. Thus, this project will help develop new strategies for the diagnosis, prevention, and treatment of ASD.