Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy

Svetlana F Khaiboullina, Ekaterina V Martynova, Sergey N Bardakov, Mikhail O Mavlikeev, Ivan A Yakovlev, Arthur A Isaev, Roman V Deev, Albert A Rizvanov, Svetlana F Khaiboullina, Ekaterina V Martynova, Sergey N Bardakov, Mikhail O Mavlikeev, Ivan A Yakovlev, Arthur A Isaev, Roman V Deev, Albert A Rizvanov

Abstract

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.

Figures

Figure 1
Figure 1
Genealogy of Proband U (III:4). An arrow indicates the Proband: black, affected family member; white, healthy family member. I, II, III, and IV are generations within the Proband's family. III:1, manifestation at the age of 21 years (muscle weakness in the distal regions of the lower extremities). III:4, manifestation at the age of 26 years (muscle weakness in the posterior group of the lower leg muscles). IV:5, manifestation at the age of 21 years (muscle weakness in the distal regions of the lower extremities).

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Source: PubMed

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