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 journalArticle

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

Fingerprint

Duchenne Muscular Dystrophy
Erythrocytes
Erythrocyte Membrane
Membranes
Ion Transport
Cell Membrane

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection. / Scarlato, G.; Meola, G.; Silani, V.; Manfredi, L.; Bottiroli, G.; Zanella, A.

In: Acta Neurologica Scandinavica, Vol. 59, No. 5, 1979, p. 262-269.

Research output: Contribution to journalArticle

@article{76f7f2c429e143e5a5811e6a74fd36fe,
title = "Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection",
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.",
author = "G. Scarlato and G. Meola and V. Silani and L. Manfredi and G. Bottiroli and A. Zanella",
year = "1979",
language = "English",
volume = "59",
pages = "262--269",
journal = "Acta Neurologica Scandinavica",
issn = "0001-6314",
publisher = "Wiley Blackwell",
number = "5",

}

TY - JOUR

T1 - Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection

AU - Scarlato, G.

AU - Meola, G.

AU - Silani, V.

AU - Manfredi, L.

AU - Bottiroli, G.

AU - Zanella, A.

PY - 1979

Y1 - 1979

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0018744224&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018744224&partnerID=8YFLogxK

M3 - Article

C2 - 474067

AN - SCOPUS:0018744224

VL - 59

SP - 262

EP - 269

JO - Acta Neurologica Scandinavica

JF - Acta Neurologica Scandinavica

SN - 0001-6314

IS - 5

ER -