Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3

What is it about?

In 2014, we started collecting hair samples for analysis regarding zinc content from autistic children. We identified a high incidence rate of zinc deficiency in children with mutation in SHANK3. We therefore investigated the causes for zinc deficiency in these children in more detail using reprogrammed stem cells of children. We could show that SHANK3 has not only a role in the brain, but is also found in the gastrointestinal system, where it interacts with a major zinc uptake transporter.

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