Sunday, December 8, 2019

SCN3A gene, linked to Polymicrogyria.

Smith et al. have discovered that a gene called SCN3A (sodium voltage-gated channel alpha subunit 3), when mutated it results in a condition of abnormal brain development, polymicrogyria. Normal copies of the gene SCN3A help us speak and swallow. Their study included measurements of electrical currents generated by neurons in ferrets which led to the discovery relation between SCN3A and brain malformation and the oral motor impairment. SCN3A is primarily expressed during human fetal development in progenitors and neurons, they observed SCN3A mutations increased persistent sodium current and disrupted cerebral cortical folding. How could the gene SCN3A that enables the flow of sodium ions into the brain lead to speech and swallowing problems is still unknown.

I think such findings might turn out to be extremely helpful in the future. Every new discovery on genes that are linked to a specific disease can help many scientists around the world find a genetic diagnosis. It might even help with future advancements in gene therapy. Such advancements could potentially help a lot of people diagnosed with polymicrogyria and many other disorders. This study helped us better understand the genes involved in the formation of the most complex tissue ever created. It might also help us better understand the sodium ion channel in the future. 😄

Article publication by Cell Neuron on August 23, 2018
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