title: The role of alpha-actinin-4 in human kidney disease.
abstract: Mutations in the Alpha-actinin-4 gene (ACTN4) cause a rare form of familial focal segmental glomerulosclerosis in humans. Individuals with kidney disease-associated ACTN4 mutations tend to have mild to moderate proteinuria, with many developing decreased kidney function progressing to end stage kidney disease. All of the disease-causing ACTN4 mutations identified to date are located within the actin-binding domain of the encoded protein, increasing its binding affinity to F-actin and leading to abnormal actin rich cellular aggregates. The identification of ACTN4 mutations as a cause of human kidney disease demonstrates a key cellular pathway by which alterations in cytoskeletal behavior can mediate kidney disease. Here we review the studies relevant to ACTN4 and its role in mediating kidney disease.
authors: Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215 USA.
authors: Di
authors: D
authors: Feng
authors: Department of Medicine, Boston University School of Medicine, Boston, MA 02118 USA.
authors: Clark
authors: C
authors: DuMontier
authors: Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215 USA.
authors: Martin R
authors: MR
authors: Pollak
keywords: Alpha-actinin-4; Cytoskeleton protein; Focal segmental glomerulosclerosis; Kidney; Podocytes