Abstract
We describe a family line with an autosomal recessive disease of muscular dystrophy of the diaphragmatic muscles in Holstein-Friesian cattle. Histopathological examination in the present cases revealed various degenerative changes in the diaphragmatic and other thoracic muscles as follows: variation in muscle fiber diameter, fiber splitting, sarcoplasmic masses, ring fiber, vacuolar and hyalinized degeneration of muscle fiber . In addition, central core-like structures were the prominent features in the diaphragmatic muscles, occupying the center of the fiber or scattered within the fiber. These pathological alterations are consistent with the diaphragmatic myopathy previously reported in Meuse-Rhine-Yssel cattle in the Netherlands. The fibers containing core-like structures consisted of three distinct zones which could be well distinguished by NADH-tetrazolium reductase activity. This activity was absent in the innermost zone, decreased in the intermediate zone, and normal or increased in the periphery. Electron microscopically, this structure appeared to be composed of focal myofibrillar degeneration beginning with streaming or disintegration of the Z disk. We discuss here the similarity between this core-like structure and the other alternative organelles that have been reported previously, and a possible defect or storage in the cytoskeleton from the findings of the Z disk abnormalities.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bertini E, Ricci E, Boldrini R, Servidei S, Fuslli S, Dionisi-Vici C, Bosman C, Bonilla E (1990) Involvement of respiratory muscles in cytoplasmic body myopathy: a pathological study. Brain Dev 12:798–806
Bertini E, Bosman C, Ricci E, Servidei S, Boldrini R, Sabatelli M, Salviati G (1991) Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study. Acta Neuropathol 81: 632–640
Bertini E, Salviati G, Apollo F, Ricci E, Servidei S, Broccolini A, Papacci M, Tonali P (1994) Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathol 87:106–112
Bethlem J, Art WF, Dingemans KP (1978) Common origin of rods, cores, miniature cores, and focal cross-striations. Arch Neurol 35:555–566
Ciesielski TE, Fukuda Y, Glenn WWL, Gorfien J, Jeffery K, Hogan JF (1983) Response of the diaphragmatic muscle to electrical stimulation of the phrenic nerve. Neurosurg 58: 92–100
Dubowitz V (1985) Muscle biopsy: a practical appraoch, 2nd edn. Baillière Tindall, London
Edström L, Thornell LE (1986) A dominantly inherited late onset myopathy with an early involvement of respiratory muscles and an abnormal accumulation of actin around the Z-disks. Muscle Nerve 9:203
Edström L, Thornell LE, Eriksson A (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neuro Sci 47: 171–190
Edström L, Thornell LE, Albo J, Landin S, Samuelsson M (1990) Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 96:211–228
Engel AG, Franzini-Armstrong C (1994) Myology, 2nd edn. McGraw-Hill, New York
Goedegebuure SA, hartman W, Hoebe HP (1983) Dystrophy of the diaphragmatic muscles in adult Meuse-Rhine-Yssel cattle: electromyographical and histological findings. Vet Pathol 20:32–48
Halbig L, Goebel HH, Hopf HC, Moll R (1991) Spheroid-cytoplasmic complexes in a congenital myopathy. Rev Neurol (Paris) 147:300–307
Jerusalem F, Ludin H, Bischoff A, Hartman N (1979) Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. J Neurol Sci 41:1–9
Kuitonnen P, Rapola J, Noponen AL, Donner M (1972) Nemalin myopathy: report of 4 cases and review of the literature. Acta Pediatr Scand 61:353–361
Nakamura N, Doi T, Furuoka H, Katoh M, Inada I, Iguchi H, Osame S, Matsui T (1994) Muscular dystrophy of the diaphragmatic muscles in Holstein-Friesian cows. J Vet Med Sci 56:993–994
Osborn M, Goebel HH (1983) The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (Berl) 62:149–152
Patel H, Berry K, MacLeod P, Dunn HG (1983) Cytoplasmic body myopathy: report on a family and review of the literature. J Neurol Sci 60:281–292
Pellissier JF, Pouget J, Charpin C, Figarella D (1989) Myopathy associated with desmin type intermediate filaments: an immunoelectron microscopic study. J Neurol Sci 89:49–61
Ringel SP, Neville HE, Duster MC, Carroll JE (1978) A new congenital neuromuscular disease with trilaminar muscle fibers. Neurology 28:282–289
Sabatelli M, Bertini E, Ricci E, Saviati G, Magi S, Papacci M, Tonali P (1992) Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci 109:1–10
Schröder JM, Sommer C, Schmidt B (1990) Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note on unusual 18- to 20-nm filaments. Acta Neuropathol 80:406–414
Sugita H, Masaki T, Ebashi S, Pearson CM (1974) Staining of the nemalin rod by fluorescent antibody against 10s-actinin. Proc Jpn Acad Sci 50:237–240
Yamaguchi M, Robson RM, Stromer MH (1978) Actin filaments from the backbone of nemalin myopathy rods. Nature 271:265–267
Yamaguchi M, Robson RM, Stromer MH (1983) Evidence for actin involvement in cardiac Z-lines and Z-line analogues. J Cell Biol 96:435–442
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Furuoka, H., Doi, T., Nakamura, N. et al. Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle. Acta Neuropathol 90, 339–346 (1995). https://doi.org/10.1007/BF00315007
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00315007