Study of apoptosis in mitochondrial diseases

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1. Biopsied muscles from several disorders were studied with anti-Fas antibody and anti-BCL2 antibody. Type 2 muscle fibers identified by ATPase staining were positively stained by anti-Fas antibody (IgM) immunohistochemically. Anti-BCL2 antibody did not stain any muscle fibers. Western blot analysis using anti-Fas antibody showed a single band at 47kd in both skeletal muscle and peripheral lymphocytes.2. Any disease specific staning pattern with anti-Fas antibody was not observed in biopsied muscle of mitochondrial encephalomyopathy, myositis, muscular dystrophy, congenital myopathy.3. Expression of Fas mRNA in culture cells was studied by RT-PCR method. Fas mRNA was expressed in myoblasts and culture human endothelial cells but not in fibroblast.4. We studied clinical and genetic aspects of mitochondrial encephalomyopathy and other related diseases.(1) Clinical features of cardiac involvement in mitochondrial diseases varied in the different subgroups of the disorders. Particular mitochondrial mutations could cause characteristic cardiac abnormalities.(2) Nuclear DNA mutation was suspected in familial patients with deaf-mutism, progressive ophthalmoplegia, mitochondrial myopathy and leukodystrophy.(3) Paternal transmission of congenital myotonic dystrophy, which has been known to have secondary mitochondrial dysfunction, was confirmed molecular biologically.(4) Ocular manifestations in mitochondrial encephalomyopathy and other relatied diseases developed in association with genetic defects.5.To elucidate clinical significance of apoptosis in ATL and HTLV-I-associated myelopathy (HAM), in which apoptosis is induced in spinal cord, chinical and loboratoey findings of 213 HAM patients were analyzed.