Kell and XK immunohistochemistry in McLeod myopathy
2001; Wiley; Volume: 24; Issue: 10 Linguagem: Inglês
10.1002/mus.1154
ISSN1097-4598
AutoresHans H. Jung, David Russo, Colvin M. Redman, Sebastian Brandner,
Tópico(s)RNA modifications and cancer
ResumoAbstract 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 crucial factor for the maintenance of normal muscle structure and function. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1346–1351, 2001
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