Markesbery Disease: Autosomal Dominant Late-Onset Distal Myopathy: From Phenotype to ZASP Gene Identification
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In 1974, Markesbery et al. thoroughly characterized and reported a large kindred with distal muscle weakness of late adult-onset that was autosomal dominantly inherited. Clinical evidence supported myopathy rather than the usual neuropathy expected with distal weakness. Postmortem examination of two patients documented myopathy and excluded anterior horn cell disease or peripheral neuropathy as the cause. Distinctive morphologic changes were present in muscle. Widely accepted as a distinct disease entity, this disorder has recently been characterized as one of a group of myofibrillar myopathies resulting from mutations in several muscle proteins. Studies of members of the original family have now identified the molecular defect to be a mutation in ZASP, Z-band alternatively spliced PDZ-motif-containing protein. The specific mutation, A165V, was identified in all clinical affected family members by direct sequencing. Thus, Markesbery disease is a zaspopathy. Other families have been identified with the same mutation and a shared haplotype indicating a founder effect.
- Arimura, T., Hayashi, T., Terada, H., Lee, S. Y., Zhou, Q., Takahashi, M., et al. (2004). A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. The Journal of Biological Chemistry, 279, 6746–6752. CrossRef
- Au, Y., Atkinson, R. A., Guerrini, R., Kelly, G., Joseph, C., Martin, S. R., et al. (2004). Solution structure of ZASP PDZ domain; implications for sarcomere ultra-structure and enigma family redundancy. Structure, 12(4), 611–622. CrossRef
- Griggs, R. C., & Markesbery, W. R. (1986). Distal myopathies. In A. G. Engel & B. Q. Banker (Eds.), Myology (pp. 1313–1325). New York: McGraw Hill.
- Griggs, R., Vihola, A., Hackman, P., et al. (2007). Zaspopathy in a large classic late onset distal myopathy family. Brain, 130, 1477–1484. CrossRef
- Huang, C., Zhou, Q., Liang, P., et al. (2003). Characterization and in vivo functional analysis of splice variants of cypher. The Journal of Biological Chemistry, 278, 7360–7365. CrossRef
- Klaavuniemi, T., & Ylanne, J. (2006). Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin-analysis of patient mutations. Experimental Cell Research, 312, 1299–1311. CrossRef
- Knoll, R., Hoshijima, M., Hoffman, H.-M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., et al. (2002). The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell, 111, 943–955. CrossRef
- Markesbery, W. R., Griggs, R. C., & Herr, B. (1977). Distal myopathy: Electron microscopic and histochemical studies. Neurology, 27, 727–741.
- Markesbery, W. R., Griggs, R. C., Leach, R. P., et al. (1974). Late onset hereditary distal-myopathy. Neurology, 23, 127–134.
- Miyoshi, K., Iwasa, M., Kawai, H., et al. (1977). Autosomal recessive distal muscular dystrophy: A new variety of distal muscular dystrophy predominantly seen in Japan. Nippon Rinsho (Tokyo), 35, 3922.
- Nonaka, I., Sunohara, N., Ishiura, S., et al. (1981). Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. Journal of the Neurological Sciences, 51, 141–155. CrossRef
- Pénisson-Besnier, I., Talvinen, K., Dumez, C., Vihola, A., Dubas, F., Fardeau, M., et al. (2006). Myotilinopathy in a late onset myopathy family. Neuromuscular Disorders, 16, 427–431. CrossRef
- Selcen, D., & Engel, A. G. (2004). Mutations in myotilin cause myofibrillar myopathy. Neurology, 62, 1363–1371.
- Selcen, D., & Engel, A. G. (2005). Mutations in ZASP define a novel form of muscular dystrophy in humans. Annals of Neurology, 57, 269–276. CrossRef
- Udd, B., Partanen, J., Halonen, P., et al. (1993). Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Archives of Neurology, 50, 604–608.
- Vatta, M., Mohapatra, B., Jimenez, S., Sanchez, X., Faulkner, G., Perles, Z., et al. (2003). Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. Journal of the American College of Cardiology, 42(11), 2014–2027. CrossRef
- Welander, L. (1951). Myopathia distalis tarda hereditaria. Acta Medica Scandinavica, 141(Suppl. 265), 1.
- Markesbery Disease: Autosomal Dominant Late-Onset Distal Myopathy: From Phenotype to ZASP Gene Identification
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