Publication Date:
2003-05-24
Description:
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 haploinsufficiency 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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kim, Jeong M -- Wu, Hui -- Green, Gopa -- Winkler, Cheryl A -- Kopp, Jeffrey B -- Miner, Jeffrey H -- Unanue, Emil R -- Shaw, Andrey S -- New York, N.Y. -- Science. 2003 May 23;300(5623):1298-300.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12764198" target="_blank"〉PubMed〈/a〉
Keywords:
Adaptor Proteins, Signal Transducing
;
Animals
;
Antigen-Antibody Complex
;
Basement Membrane/immunology/metabolism/pathology
;
Chromatography, High Pressure Liquid
;
Cytoskeletal Proteins
;
Endocytosis
;
Epithelial Cells/pathology/physiology
;
Exons
;
Ferritins/metabolism
;
*Genetic Predisposition to Disease
;
Genetic Variation
;
Glomerular Mesangium/immunology/pathology
;
Glomerulosclerosis, Focal Segmental/*genetics/metabolism/pathology
;
Heterozygote
;
Humans
;
Immunoglobulins/analysis
;
Kidney Diseases/*genetics/metabolism/pathology
;
*Kidney Glomerulus/immunology/metabolism/pathology
;
Mice
;
Mice, Knockout
;
Mutation
;
Polymerase Chain Reaction
;
Polymorphism, Genetic
;
Proteins/*genetics/*physiology
;
Proteinuria/etiology
;
RNA Splicing
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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