CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

被引：370

作者：

Kim, JM

Wu, H

Green, G

Winkler, CA

Kopp, JB

Miner, JH

Unanue, ER

Shaw, AS ^{[1
]}

机构：

[1] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA

[2] Washington Univ, Sch Med, Dept Internal Med, Div Renal, St Louis, MO 63110 USA

[3] NCI, Mol Epidemiol Sect, Lab Genom Divers, NIH, Frederick, MD 21702 USA

[4] NIDDKD, Kidney Dis Sect, NIH, Bethesda, MD 20892 USA

来源：

SCIENCE | 2003年 / 300卷 / 5623期

关键词：

D O I：

10.1126/science.1081068

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Loss of CD2-associated protein (CD2AP), a component of the filtration complex in the kidney, causes death in mice at 6 weeks of age. Mice with CD2AP haploin-sufficiency developed glomerular changes at 9 months of age and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes. Electron microscopic analysis of podocytes revealed defects in the formation of multivesicular bodies, suggesting an impairment of the intracellular degradation pathway. Two human patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease.

引用

页码：1298 / 1300

页数：3

共 23 条

[1] FIBRILLARY GLOMERULONEPHRITIS AND IMMUNOTACTOID GLOMERULOPATHY - 2 ENTITIES, NOT ONE [J].