Aquaporin-4 expression in distal myopathy with rimmed vacuoles
| Autor: | Tomoko Soeda, Yoshikazu Ugawa, Teiji Yamamoto, Keiko Shimizu, Akihiko Hoshi, Saeko Kikuchi |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Clinical Neurology Rimmed vacuoles (RVs) Case Report Vacuole lcsh:RC346-429 Leg muscle Fast-twitch type 2 fiber Aquaporin-4 (AQP4) medicine Humans Tissue Distribution Myopathy Muscle Skeletal lcsh:Neurology. Diseases of the nervous system Aquaporin 4 Hereditary inclusion body myopathy business.industry Rimmed vacuoles General Medicine Anatomy medicine.disease Distal Myopathies Water channel Distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (hIBM) Vacuoles Neurology (clinical) medicine.symptom business Biomarkers |
| Zdroj: | BMC Neurology BMC Neurology, Vol 12, Iss 1, p 22 (2012) |
| ISSN: | 1471-2377 |
| DOI: | 10.1186/1471-2377-12-22 |
| Popis: | Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. Case presentation Here, we studied the expression of aquaporin-4 in muscle fibers of a patient with distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy. Immunohistochemical and immunofluorescence analyses showed that sarcolemmal aquaporin-4 immunoreactivity was reduced in many muscle fibers of the patient. However, the intensity of aquaporin-4 staining was markedly increased at rimmed vacuoles or its surrounding areas and in some muscle fibers. The fast-twitch type 2 fibers were predominantly involved with the strong aquaporin-4-positive rimmed vacuoles and TAR-DNA-binding protein-43 aggregations. Rimmed vacuoles with strong aquaporin-4 expression seen in the distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy patient were not found in control muscles without evidence of neuromuscular disorders and the other disease-controls. Conclusions Aquaporin-4 might be crucial in determining the survival or degeneration of fast-twitch type 2 fibers in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy. |
| Databáze: | OpenAIRE |
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