Evidence for an Altered Physical State of Membrane Proteins in Erythrocytes in Friedreich's Ataxia

Electron spin resonance, scanning electron microscopic, and SDS-polyacrylamide gel electrophoretic studies of erythrocytes in Friedreich's ataxia have been performed. No alteration in the physical state of membrane lipids, in morphology, or in the staining profile of erythrocytes in Friedreich's ataxia could be demonstrated. An altered conformation and I or organization of proteins in ery-throcyte membranes in this disorder was suggested by spin labeling studies (P < 0.025), favoring the possibility of a generalized membrane abnormality in Friedreich's ataxia. These findings are discussed in relation to other inherited neurological diseases where similar studies have been performed.