Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers

P. Sabatelli, S. Squarzoni, S. Petrini, C. Capanni, A. Ognibene, L. Cartegni, F. Cobianchi, L. Merlini, D. Toniolo, N. M. Maraldi

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

Abstract

Emery-Dreifuss muscular dystrophy (EMD) is an inherited myopathy characterised by muscle contractures, progressive muscle wasting and weakness, with humeroperoneal distribution. Cardiac arrhythmia and heart conduction block are also important characteristics of this disease. The X-linked form of EMD is caused by the absence of emerin, encoded by the STA gene (Xq28). Emerin is normally localised in muscle and other tissues at the nuclear rim. Currently, muscle and skin biopsies are used for the immunohistochemical diagnosis. We demonstrate that emerin is present in the cheek oral mucosa, in the exfoliating epithelial cells, and we propose the collection of these cells as a new method for the diagnosis of X-linked EMD patients and the detection of carriers by immunofluorescence techniques: smears from healthy subjects contained about 98% emerin-positive cells, those from X-linked EMD patients contained none and those from carriers contained about 45%. The technique is completely non-invasive, simple, repeatable and inexpensive.

Original languageEnglish (US)
Pages (from-to)67-71
Number of pages5
JournalNeuromuscular Disorders
Volume8
Issue number2
DOIs
StatePublished - Apr 1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Keywords

  • Emerin
  • Emery-Dreifuss muscular dystrophy (EMD)
  • Immunoblotting
  • Immunohistochemistry
  • SDS-polyacrylamide gel electrophoresis (SDS-PAGE)

Fingerprint

Dive into the research topics of 'Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers'. Together they form a unique fingerprint.

Cite this