MYO1E, Focal Segmental Glomerulosclerosis, and the Cytoskeleton

• Published in: The New England journal of medicine Vol. 365; no. 4; pp. 368 - 369
• Main Author: Ingelfinger, Julie R
• Format: Journal Article
• Language: English
• Published: United States Massachusetts Medical Society 28.07.2011
• Subjects: Calcineurin Inhibitors; Cyclosporine - pharmacology; Cyclosporine - therapeutic use; Cytoskeleton; Cytoskeleton - drug effects; Diaphragm; Disease; Drug Resistance; End-stage renal disease; Enzyme Inhibitors - pharmacology; Enzyme Inhibitors - therapeutic use; Genes; Glomerulosclerosis, Focal Segmental - drug therapy; Glomerulosclerosis, Focal Segmental - genetics; Glucocorticoids; Glucocorticoids - pharmacology; Glucocorticoids - therapeutic use; Humans; Immunosuppressive agents; Kidney diseases; Kidney transplantation; Motility; Mutation; Myosin Type I - genetics; Nephrotic syndrome; Podocytes - drug effects; Podocytes - ultrastructure; Proteins; Proteinuria
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMe1106093

Focal segmental glomerulosclerosis, one of the most common glomerulopathies, is typically heralded by massive proteinuria, often associated with unremitting nephrotic syndrome and inexorable progression to end-stage kidney disease. 1 – 3 Unfortunately, therapy is frequently unsuccessful — many patients with this disorder do not respond to treatment with glucocorticoids, and immunosuppressive therapy often fails as well. The disease also frequently recurs after kidney transplantation. The podocyte is critical to the development of focal segmental glomerulosclerosis. This dynamic cell controls glomerular filtration by means of its slit-pore diaphragm and other properties, which include motility along the glomerular basement membrane. 4 Podocytes surround and adhere . . .