What are the underlying causes of autism?

The exact cause of autism is still unknown, but experts believe that it is likely due to a combination of genetic and environmental factors. Studies have shown that certain genes may play a role in the development of autism, but no single gene has been found to cause the disorder. Environmental factors, such as prenatal exposure to toxins and or infections, may also increase the risk of autism.

Additionally, abnormalities in brain development and connectivity have been observed in individuals with autism, suggesting that neurological factors may also contribute to the disorder. What genes play a role in autism? There are many genes that have been associated with autism, but no single gene has been found to cause the disorder on its own. Some of the genes that have been identified as potential contributors to autism include, SHANK3, CHD8, and NRXN1.

Other genes that have been linked to autism include those involved in synaptic function, metabolism, and immune function. It is important to note that while genetic factors can increase the risk of autism, they do not guarantee that a person will develop the disorder, and environmental factors may also play a role. Both spontaneous and inherited SHANK3 mutations inhibit the role of the protein, which forms a scaffolding to organize other proteins at the synapse.

Among other functions, it secures a receptor for a chemical messenger called glutamate to the receiving end of the synapse. Glutamate signaling is needed to establish learning and memory. Imbalances in glutamate signaling have been implicated in autism. SHANK3 is located in the 22q13 chromosomal region, which is deleted in individuals with Phelan-McDermid syndrome, a disorder characterized by severe intellectual disability and delayed speech, often accompanied by autism.

A study published June 2013 in Molecular Autism found that the majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability1.Researchers first linked the gene to autism in 2007, when they found several children with autism who carry SHANK3 mutations2. Several studies since then have found SHANK3 mutations in people with the disorder 3,4,5.

The mutations described so far range from deletions of the entire gene to subtle changes that substitute individual amino acids.Since late 2010, no fewer than five different lines of SHANK3 mutant mice have been established, with different parts of the protein disrupted in the various models6. This substantial effort reflects in part SHANK3’s importance in the brain, and in part its complex structure. Each mouse model exhibits different autism-like features, ranging from abnormal social interactions to obsessive self-grooming.


Laura Zukerman

Owner and Founder At The Goddess Bibles

A Memoir By Laura Zukerman

Becoming Your Inner Goddess/God

Goddess/God On Fire ❤

Reference on Info for SHANK3 relating to Autism: https://www.spectrumnews.org/wiki/shank3/


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