Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sufonate (1.8-ANS) we have tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. We found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method we were able to: - confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD - find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.

Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection / G. Scarlato, G. Meola, V. Silani, L. Manfredi, G. Bottiroli, A. Zanella. - In: ACTA NEUROLOGICA SCANDINAVICA. - ISSN 0001-6314. - 59:5(1979 May), pp. 262-269.

Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection

G. Meola
Secondo
;
V. Silani;A. Zanella
Ultimo
1979

Abstract

Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sufonate (1.8-ANS) we have tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. We found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method we were able to: - confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD - find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
Heterozygote detection ; adult ; age factors ; anilino naphthalenesulfonates ; cell membrane permeability ; child ; child preschool ; erythrocyte membrane ; erythrocytes ; humans ; middle aged ; muscular dystrophies ; sex factors ; spectrometry fluorescence
Settore MED/26 - Neurologia
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
mag-1979
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/227314
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