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Cytokines in treated and untreated Pompe patients

  • N Karabul
  • S Gökce
  • M Kirchner
  • W Mannhardt
  • E Mengel
Open Access
Poster presentation
  • 1.3k Downloads

Keywords

Damage Muscle Adaptive Immunity Lysosomal Enzyme Storage Disease Glycogen Storage 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Introduction

Glycogen storage disease type II (Pompe disease or acid maltase deficiency) is an autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Accumulation of glycogen in the lysosomes damages muscle cells throughout the body. In response to that damage, we hypothesized that cytokines (a family of proteins that mediate innate and adaptive immunity) would be elevated. We investigated 30 (15 female, 15 male) Pompe patients before ERT start and 1 year after ERT and used high-resolution ELISA.

Results

Before ERT start in 20 patients (12f, 8m) we saw elevated TNFy and Interleukin-2. After treatment more than 50% TNFy was normalized. But after treatment some cytokines were elevated. We don’t see any correlation between antibody levels against ERT in these patients.

Conclusion

Our results showed that some patients had elevated cytokines and monocytes. Our hypothesis is that also immunological factors play also a role in disease, causing the development of pain in Pompe disease. Now we are looking for correlations between pain and cytokines levels, and results will follow.

Copyright information

© Karabul et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • N Karabul
    • 1
  • S Gökce
    • 1
  • M Kirchner
    • 1
  • W Mannhardt
    • 1
  • E Mengel
    • 1
  1. 1.Center for Pediatric and Adolescent MedicineUniversity Medical CenterMainzGermany

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