Steroid-resistant nephrotic syndrome and MYO1E mutation / 国际儿科学杂志

ABSTRACT

MYO1E gene is located on chromosome 15 and encodes myosin 1e,which acts as an actin-based molecular motor of cytoskeleton. Myosin 1e is critical to maintain the podocyte function and the conse-quent integrity of the glomerular filtration barrier. Mutations in MYO1E gene has been indentified to be the cause of childhood-onset,familial steroid-resistant focal segmental glomerulosclerosis. Surprisingly,three patients with MYO1E mutations had partial remission by cyclosporine therapy. Detection of the MYO1E gene in the patients suffering from steroid-resistant nephrotic syndrome will be beneficial to make therapeutic decisions and predict prognoses.