We have discussed genes and autism before – an article, along with an accompanying editorial, was published in the peer-reviewed JAMA Psychiatry in 2019 examined the genetics of autism. They found that approximately 80% of the cause of autism was genes from the mother and father (since that’s the only way genes get to a child).
Let’s take a brief look at a new paper just published that discusses genes and autism. Spoiler alert, it’s all about genes.
Genes and autism – the new paper
The paper on genes and autism was authored by Joseph D. Buxbaum Ph.D., Professor of Psychiatry, Neuroscience, and Genomic Science at the Icahn School of Medicine at Mt. Sinai et al. and published in the respected peer-reviewed journal, Cell. The researchers performed the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD).
Exome sequencing is a more efficient way to diagnose and determine links to rare genetic diseases. This study helps us understand how genetics is linked to ASD.
The study found the following:
- 102 genes are implicated in the risk for autism spectrum disorder. Many people seem to think that a genetic disorder is linked to one gene (and sometimes that’s true), but genetic disorders are very complicated. In this case, there are 102 genes that are important to ASD.
- Most are expressed and enriched early in development. In other words, autism probably develops as a result of some or all of these 102 genes in utero, well before any child is vaccinated.
- These genes appear to affect synapses or regulate other genes. Of course, how these genes interact with one another needs to be investigated further.
- Some of these 102 ASD genes alter early development broadly, others appear more specific to ASD.
- Of the 102 genes, 49 show a higher frequency in individuals who have severe neurodevelopmental delays.
- The other 53 genes show higher frequencies in individuals who have been diagnosed with ASD.
- Most of these genes appear to have roles in the regulation of gene expression or biochemical communications between neurons. In other words, mutations in the genes have an effect on neurodevelopmental and neurophysiological changes.
- The expression of these genes is important in excitatory and inhibitory neurons, consistent with the multiple paths of the excitatory and inhibitory neurons in given regions of the brain that underlies ASD.
Once again, we have powerful evidence that genes and autism are links that are important to our understanding of the etiology of ASD. Not vaccines.
Just to make this clear, the authors of this paper summarized their findings:
Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.
It is clear that the genes and autism hypothesis is supported by enough evidence that we can state it is settled science. The “vaccines cause autism” myth is nothing more than ignorant nonsense pushed by anti-vaxxers who probably are incapable of understanding 0.00001% of this article.
- Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. JAMA Psychiatry. 2019 Jul 17;. doi: 10.1001/jamapsychiatry.2019.1411. [Epub ahead of print] PubMed PMID: 31314057.
- Jutla A, Reed H, Veenstra-VanderWeele J. The Architecture of Autism Spectrum Disorder Risk: What Do We Know, and Where Do We Go From Here?. JAMA Psychiatry. 2019 Jul 17;. doi: 10.1001/jamapsychiatry.2019.1375. [Epub ahead of print] PubMed PMID: 31314055.
- Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 Jan 23;. doi: 10.1016/j.cell.2019.12.036. [Epub ahead of print] PubMed PMID: 31981491.
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