The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A |
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Authors: | Vainzof M de Paula F Tsanaclis A M Zatz M |
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Affiliation: | Human Genome Research Centre, Department of Biology, IBUSP, University of S?o Paulo, S?o Paulo, Sao Paulo - CEP, 05508-900, SP Brazil. |
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Abstract: | Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine kinase concentrations. All were homozygous for the R110X mutation and showed a total absence of calpain 3 in the muscle. Histological analysis of muscle in these three rare preclinical cases showed a consistent but unusual pattern, with isolated fascicles of degenerating fibres in an almost normal muscle. This pattern was also seen in one patient with early stage LGMD2A who had a P82L missense mutation and a partial deficiency of calpain 3 in the muscle, but was not seen in early stage patients affected by other forms of LGMD. These findings suggest that a peculiar pattern of focal degeneration occurs in calpainopathy, independently of the type of mutation or the amount of calpain 3 in the muscle. |
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