Elevated blood levels of Manganese secondary toSLC30A10gene mutation presents distinctly with dystonia, polycythemia, chronic liver disease and a characteristic high T1 signal in basal ganglia on brain MRI. The primary treatment for this condition is chelation along with iron therapy. We report a ...
In conclusion, we have shown that vitamin D3transactivates the SLC30A10 gene in a VDR-dependent manner, resulting in increased ZnT10 protein expression. Because SLC30A10 is highly expressed in the small intestine, it is possible that the control of zinc and manganese systemic levels is ...
Tuschl, KarinMills, PhillipaJournal of Pioneering Medical SciencesMukhtiar K, Ibrahim S, Tuschl K, et al. Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain Dev, 2016, 38: 862-5...
gene expressionnuclear receptorVITAMIN-D-RECEPTOREFFLUX TRANSPORTERBile acids (BAs) comprise heterogenous amphipathic cholesterol-derived molecules that carry out physicochemical and signaling functions. A major site of BA action is the terminal ileum, where enterocytes actively reuptake BAs and express high...
Whole exome sequencing identified a novel missense homozygous variant (c. 137C>A p.(Ser46Tyr)) in the SLC30A10 gene, classified as a variant of uncertain significance (class 3) by the ACMG scheme. Furthermore, both parents were carriers of a heterozygous missense pathogenic variant (c. ...
MESSENGER RNANON-small-cell lung carcinomaGENE expressionRNA regulationERGOCALCIFEROLBackground: Lung cancer has been major cause of cancer related death and day by day Non-small cell lung cancer (NSCLC) cases are increasing globally. Present study explored the link between SLC30A10 mRNA expression ...
A recently discovered mutation in \\\{SLC30A10\\\} identified its gene product as putatively involved in Mn efflux. Patients with the \\\{SLC30A10\\\} mutation display Parkinsonian-like gate disturbances and hypermanganesemia. This review will address Mn transport proteins, the newly discovered...
Hepatic Hif2a deficiency corrected erythropoietin expression and polycythemia and attenuated aberrant hepatic gene expression in Slc30a10-deficient mice, while hepatic Hif1a deficiency had no discernible impact. Hepatic Hif2a deficiency also attenuated manganese excess, though the underlying cause of this ...
The candidate gene was sequenced on an ABI sequencer. Functional studies in the manganese-sensitive yeast strain 螖pmr1 were performed using Gateway technology (Invitrogen). Homozygosity mapping identified SLC30A10 as the affected gene, and homozygous sequence changes were found in all affected ...
This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and *...