Single Cell Genetics in Autism

Autism research has developed into a multidimensional scavenger hunt with every research tool possible being thrown at the growing epidemic. It benefits from new discoveries and new tools in other fields, particularly lab methods such as single cell transcriptomics. In this study, researchers evaluated single cells for genetic expression changes in different areas of autistic patients’ brains.
Researchers used the advancing field of transcriptomics to evaluate how genes in specific brain cells were turned up or down in autism patients. Transcriptomics refers to our ability to measure how much messenger RNA is produced for different genes. It is this messenger RNA which then gets translated in to proteins. Rather than look at whether a gene has a mutation, this looks at how much of a gene product is produced under different condition.
Now that we can perform this test at the single cell level, these researchers were able to tease out specific cells in autistic patient brains. The looked at brain cells which were suspected to be in the common pathway of autism regardless of the trigger. While various forms and causes of autism seem to make our research challenging, most seem to affect upper layer cortical neural circuits.
When researchers evaluated these cells, they did find specific changes when the patient had been diagnosed with autism. Much more research needs to consider why these changes cause such autistic symptoms. Meanwhile, at Sanctuary, we will work to discern the root causes such as chronic toxins, gut dysbiosis, or nutritional deficiencies so we can help children live healthier more abundant lives. I look forward to more research from these methods.

Science. 2019 May 17;364(6441):685-689. doi: 10.1126/science.aav8130.
Single-cell genomics identifies cell type-specific molecular changes in autism.
Velmeshev , Schirmer L, Jung D, Haeussler M, Perez Y, Mayer S, Bhaduri A, Goyal N, Rowitch
DH, Kriegstein AR


Sanctuary Functional Medicine, under the direction of Dr Eric Potter, IFMCP MD, provides functional medicine services to Nashville, Middle Tennessee and beyond. We frequently treat patients from Kentucky, Alabama, Mississippi, Georgia, Ohio, Indiana, and more... offering the hope of healthier more abundant lives to those with chronic illness.

About the Author :

Leave a Comment