Defects in erythrocyte membrane skeletal architecture.

Abstract

The structure and function of membrane skeleton (MS) is gaining its significance in the recent years. Considerable development has been made in our understanding of the role of the many erythrocyte MS proteins in regulating normal and pathologic features of erythrocyte membrane physiology. This review focuses on erythrocyte MS, its organization, protein-protein and protein lipid interactions. Various functions of MS and their alterations are also dealt here. The molecular defects that result in the most common erythrocyte membrane disorder, hereditary spherocytosis and the diverse defect that produce hereditary elliptocytosis are briefly described here. The most common molecular lesions in these erythrocyte phenotypes involve mutations in α and β-spectrin genes; ankyrin, band 3, 4.1R, 4.2 and Glycophorin C can also produce such hereditary hemolytic disorders. Finally, we have explored MS alterations induced by the malarial parasite, Plasmodium falciparum, in the infected erythrocytes. This review article attests to the enormous progress in our understanding of the contribution of erythrocyte membrane skeletal proteins to human diseases.