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Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406743/ https://www.ncbi.nlm.nih.gov/pubmed/28487742 http://dx.doi.org/10.1155/2017/3615354 |
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author | Khaiboullina, Svetlana F. Martynova, Ekaterina V. Bardakov, Sergey N. Mavlikeev, Mikhail O. Yakovlev, Ivan A. Isaev, Arthur A. Deev, Roman V. Rizvanov, Albert A. |
author_facet | Khaiboullina, Svetlana F. Martynova, Ekaterina V. Bardakov, Sergey N. Mavlikeev, Mikhail O. Yakovlev, Ivan A. Isaev, Arthur A. Deev, Roman V. Rizvanov, Albert A. |
author_sort | Khaiboullina, Svetlana F. |
collection | PubMed |
description | Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients. However, the immune system has been suggested to contribute to muscle cell death and tissue regeneration. Serum levels of 27 cytokines were evaluated in a dysferlinopathy patient. Levels of 8 cytokines differed in patient serum compared to controls. Five cytokines (IL-10, IL-17, CCL2, CXCL10, and G-CSF) were higher while 3 were lower in the patient than in controls (IL-2, IL-8, and CCL11). Together, these data on serum cytokine profile of this dysferlinopathy patient suggest immune response activation, which could explain leukocyte infiltration in the muscle tissue. |
format | Online Article Text |
id | pubmed-5406743 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-54067432017-05-09 Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy Khaiboullina, Svetlana F. Martynova, Ekaterina V. Bardakov, Sergey N. Mavlikeev, Mikhail O. Yakovlev, Ivan A. Isaev, Arthur A. Deev, Roman V. Rizvanov, Albert A. Case Rep Med Case Report Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients. However, the immune system has been suggested to contribute to muscle cell death and tissue regeneration. Serum levels of 27 cytokines were evaluated in a dysferlinopathy patient. Levels of 8 cytokines differed in patient serum compared to controls. Five cytokines (IL-10, IL-17, CCL2, CXCL10, and G-CSF) were higher while 3 were lower in the patient than in controls (IL-2, IL-8, and CCL11). Together, these data on serum cytokine profile of this dysferlinopathy patient suggest immune response activation, which could explain leukocyte infiltration in the muscle tissue. Hindawi 2017 2017-04-13 /pmc/articles/PMC5406743/ /pubmed/28487742 http://dx.doi.org/10.1155/2017/3615354 Text en Copyright © 2017 Svetlana F. Khaiboullina et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Khaiboullina, Svetlana F. Martynova, Ekaterina V. Bardakov, Sergey N. Mavlikeev, Mikhail O. Yakovlev, Ivan A. Isaev, Arthur A. Deev, Roman V. Rizvanov, Albert A. Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title | Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title_full | Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title_fullStr | Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title_full_unstemmed | Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title_short | Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy |
title_sort | serum cytokine profile in a patient diagnosed with dysferlinopathy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406743/ https://www.ncbi.nlm.nih.gov/pubmed/28487742 http://dx.doi.org/10.1155/2017/3615354 |
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