NIH R01 · 2024
Molecular Basis of Mammalian Manganese Homeostasis
Metals are essential for human health yet potentially toxic in excess. Our understanding of metal homeostasis stems prominently from studies of inherited diseases of metal deficiency and excess. The molecular basis of manganese (Mn) homeostasis is poorly understood relative to other metals, given that inherited Mn-related diseases were only recently identified. In 2012, mutations in a metal export protein SLC30A10 were reported in patients with Mn excess, liver and neurologic disease, increased red blood cell counts, and erythropoietin excess. Mn excess was attributed to impaired biliary Mn excretion, while liver, neurologic, and hematologic defects were ascribed to Mn toxicity. Employing…
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