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

Research output: Contribution to journalArticlepeer-review

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 sulfonate (1-8-ANS), the authors tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. They found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method they were able to: confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD, and 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.

Original languageEnglish
Pages (from-to)262-269
Number of pages8
JournalActa Neurologica Scandinavica
Volume59
Issue number5
Publication statusPublished - 1979

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection'. Together they form a unique fingerprint.

Cite this