IgG deficiency and expansion of CTG repeats in myotonic dystrophy |
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Authors: | Kaminsky Pierre Lesesve Jean François Jonveaux Philippe Pruna Lelia |
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Affiliation: | a Centre de Référence des Maladies Neuromusculaires, Unité de Médecine Interne - Maladies Orphelines et Systémiques, Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, rue du Morvan, 54511 Vandoeuvre Cedex, France b Laboratoire d’Hématologie Biologique, Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, rue du Morvan, 54511 Vandoeuvre Cedex, France c Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, rue du Morvan, 54511 Vandoeuvre Cedex, France |
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Abstract: | ObjectivesExpansion of CTG repeats in myotonic dystrophy (DM1) alters the regulated expression of numerous genes. It is considered to explain the major clinical features of DM1. IgG deficiency is common in DM1 and is due to altered FcRn-related hypercatabolism. We hypothesized that the IgG catabolic rate is correlated with CTG repeat expansion.MethodsCorrelations between serum immunoglobulin levels, peripheral lymphocyte subset counts and CTG repeat numbers were performed in 52 DM1 patients.ResultsSerum IgG and IgG1 levels were below the normal limit respectively in 54% and 72% of patients. Increasing CTG repeat numbers were significantly correlated with decreasing serum IgG and IgG1 levels, and with decreasing CD3+ T-cell and CD3+-CD8+ cell counts. An abnormal immunoglobulin profile at protein electrophoresis was found in 4 patients.ConclusionWe conclude that the catabolic rate of IgG is linked to expanded CTG repeats, possibly involving an altered immune response. |
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Keywords: | DM1, myotonic dystrophy type I DMPK, myotonic dystrophy protein kinase FcRn, fragment c Receptor neonatal IgA, immunoglobulin A IgG, immunoglobulin G IgGm, immunoglobulin G subclass m IgM, immunoglobulin M MHC, major histocompatibility PaO2, arterial O2 partial pressure PaCO2, arterial CO2 partial pressure SD, standard deviation |
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