The RCAN1 gene is located on human chromosome 21. Trisomy of RCAN1 had been proposed to contribute to a number of pathological phenotypes observed in Down syndrome (DS). Work from our laboratory, in collaboration with the laboratories of Drs. Eric Kann and Chuck Hoeffer at NYU, has provided fundamental information regarding the molecular mechanisms through which RCAN1/DSCR1 may impact DS. Both cardiac myocytes and neurons are excitatory cells subject to large changes in cytoplasmic calcium concentrations, as such, working in these two systems has been synergistic and yielded a deeper understanding of each.
Overexpression of an RCAN1 transgene (right) causes abnormal valve development typical of infants with Down syndrome