[HTML][HTML] Mice deficient in α-actinin-4 have severe glomerular disease

CH Kos, TC Le, S Sinha, JM Henderson… - The Journal of …, 2003 - Am Soc Clin Investig
CH Kos, TC Le, S Sinha, JM Henderson, SH Kim, H Sugimoto, R Kalluri, RE Gerszten…
The Journal of clinical investigation, 2003Am Soc Clin Investig
Dominantly inherited mutations in ACTN4, which encodes α-actinin-4, cause a form of
human focal and segmental glomerulosclerosis (FSGS). By homologous recombination in
ES cells, we developed a mouse model deficient in Actn4. Mice homozygous for the targeted
allele have no detectable α-actinin-4 protein expression. The number of homozygous mice
observed was lower than expected under mendelian inheritance. Surviving mice
homozygous for the targeted allele show progressive proteinuria, glomerular disease, and …
Dominantly inherited mutations in ACTN4, which encodes α-actinin-4, cause a form of human focal and segmental glomerulosclerosis (FSGS). By homologous recombination in ES cells, we developed a mouse model deficient in Actn4. Mice homozygous for the targeted allele have no detectable α-actinin-4 protein expression. The number of homozygous mice observed was lower than expected under mendelian inheritance. Surviving mice homozygous for the targeted allele show progressive proteinuria, glomerular disease, and typically death by several months of age. Light microscopic analysis shows extensive glomerular disease and proteinaceous casts. Electron microscopic examination shows focal areas of podocyte foot-process effacement in young mice, and diffuse effacement and globally disrupted podocyte morphology in older mice. Despite the widespread distribution of α-actinin-4, histologic examination of mice showed abnormalities only in the kidneys. In contrast to the dominantly inherited human form of ACTN4-associated FSGS, here we show that the absence of α-actinin-4 causes a recessive form of disease in mice. Cell motility, as measured by lymphocyte chemotaxis assays, was increased in the absence of α-actinin-4. We conclude that α-actinin-4 is required for normal glomerular function. We further conclude that the nonsarcomeric forms of α-actinin (α-actinin-1 and α-actinin-4) are not functionally redundant. In addition, these genetic studies demonstrate that the nonsarcomeric α-actinin-4 is involved in the regulation of cell movement.
The Journal of Clinical Investigation