Normal dystrophin in McLeod myopathy

Danek, Adrian; Witt, T. N.; Stockmann, H. B. A. C.; Weiss, B; Schotland, Donald L.; Fischbeck, K. H.

doi:10.1002/ana.410280521

Cited by 16 publications

(9 citation statements)

References 12 publications

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“…The neurological features of so-called McLeod syndrome are variable and the incidence of neurological abnormality is unknown.A raised creatine kinase level appears to be a constant feature and most cases are said to develop a late-onset (5 th decade) myopathy, sometimes with cardiomyopathy [33,36], but with normal dystrophin studies [8,10,29]. Both neurophysiological and histological evidence of axonal neuropathy and myopathy has been demonstrated in certain cases [61,62,69].…”

Section: Mcleod Syndromementioning

confidence: 98%

Acanthocytosis and neurological disorders

Stevenson

Hardie

2001

Journal of Neurology

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Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E deficiency results in a progressive spinocerebellar syndrome associated with peripheral neuropathy and retinitis pigmentosa. Neuroacanthocytosis is also probably an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysarthria, areflexia, seizures and dementia. McLeod syndrome is an X-linked recessive disorder usually presenting in males as a benign myopathy with areflexia, in association with a particular abnormality of expression of Kell blood group antigens. However, occasionally the neurological features are more severe and indistinguishable from those of neuroacanthocytosis. Recent advances in molecular genetics may assist better understanding of the disease mechanisms and the search for more effective treatments.

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Section: Mcleod Syndromementioning

confidence: 98%

Acanthocytosis and neurological disorders

Stevenson

Hardie

2001

Journal of Neurology

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“…Although fiber type grouping might reflect a reinnervation phenomenon due to axonal neuropathy, most authors explained these findings with myopathic changes similar to those in female carriers of Duchenne muscular dystrophy (DMD) 31. However, dystrophin expression was normal in cases with “pure” McLeod myopathy, and DMD patients carrying the McLeod blood group phenotype had large X‐chromosomal deletions including both DMD and McLeod loci 3, 9, 20…”

mentioning

confidence: 99%

Kell and XK immunohistochemistry in McLeod myopathy

Jung¹,

Russo²,

Redman³

et al. 2001

Muscle and Nerve

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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.

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“…A slow progression to cardiomyopathy, skeletal muscle wasting and neurological defects is also associated with the syndrome (Swash et al, 1983;Carter et al, 1990;Danek et al, 1990Danek et al, , 1994Witt et al, 1992;Redman & Marsh, 1993). Although McLeod erythrocytes also exhibit a marked decrease of Kell blood group antigens, it is the Kx protein which is critical for the red cell membrane structure, since individuals of the K 0 phenotype that lack Kell but not Kx proteins on red cells do not suffer from any syndrome (Redman et al, 1988).…”

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confidence: 99%

Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides

et al. 1997

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The Kx protein is an erythrocyte membrane polypeptide which is deficient in rare individuals suffering from the McLeod syndrome. The gene encoding this protein has been recently cloned and the Kx protein independently purified as a covalent complex with the Kell blood group protein. To further study the Kx membrane protein, antisera raised in rabbits against six synthetic peptides derived from the primary sequence of this protein were characterized. All antisera but two precipitated the recombinant Kx protein synthesized in coupled transcription‐translation in vitro. Three antisera reacted on immunoblots with the 37 kD Kx protein present in the purified Kell–Kx complex and in SDS red cell membrane lysates from variants with different Kell blood group phenotypes, including K0, which lack the Kell protein of 93 kD. However, no reactivity was found with McLeod preparations lacking Kx protein, thus clearly indicating that these antibodies have a Kx specificity. Unexpectedly, the relative amount of Kx protein in K0 cells was found to be lower than in red cells with common Kell phenotypes, suggesting that the absence of the Kell protein may alter the amount of Kx in the membrane.

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Normal dystrophin in McLeod myopathy

Cited by 16 publications

References 12 publications

Acanthocytosis and neurological disorders

Acanthocytosis and neurological disorders

Kell and XK immunohistochemistry in McLeod myopathy

Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides

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