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Kell and XK immunohistochemistry in McLeod myopathy by Hans H. Jung; David Russo; Colvin Redman; Sebastian Brandner is a Medicine article available to read on EtoBox.

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## Abstract The McLeod syndrome is an X‐linked neuroacanthocytosis manifesting with myopathy and progressive chorea. It is caused by mutations of the __XK__ gene encoding the XK protein, a putative membrane transport protein of yet unknown function. In erythroid tissues, XK forms a functional complex with the Kell glycoprotein. Here, we present an immunohistochemical study in skeletal muscle of normal controls and a McLeod patient with a __XK__ gene point mutation (C977T) using affinity‐purified antibodies against XK and Kell proteins. Histological examination of the affected muscle revealed the typical pattern of McLeod myopathy including type 2 fiber atrophy. In control muscles, Kell immunohistochemistry stained sarcoplasmic membranes. XK immunohistochemistry resulted in a type 2 fiber‐specific intracellular staining that was most probably confined to the sarcoplasmic reticulum. In contrast, there was only a weak background signal without a specific staining pattern for XK and Kell in the McLeod muscle. Our results demonstrate that the lack of physiological XK expression correlates to the type 2 fiber atrophy in McLeod myopathy, and suggest that the XK protein represents a crucia

Who reads Kell and XK immunohistochemistry in McLeod myopathy?

Author

Hans H. Jung; David Russo; Colvin Redman; Sebastian Brandner

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0148-639X)

Published

2001

Language

EN

Field

Medicine (Health Sciences)