O-1 Caveolin 3 Gene and mitochondrial tRNA Methionin Gene in Duchenne Muscular Dystrophy

It was recently reported that Duchenne muscular dystrophy (DMD) patients and mdx mice have elevated levels of caveolin-3 expression in their skeletal muscles. However, it remains unknown whether this increased caveolin-3 levels contribute to the pathogenesis of DMD. Also mitochondrial DNA mutation in the tRNA methionin (tRNA Met) gene has been shown to be associated with muscle weakness, severe exercise intolerance, lactic acidosis and growth retardation. Since DMD is Xlinked maternally inherited disease, mitochondrial mutation in tRNA(Met) gene can be suspected to be the cause for the inefficient splicing of dystrophin gene during its expression and can be implicated as the cause of dystrophin inactive protein. Results gave further proof to decreased expression of inducible nitric oxide synthase (iNOS) mRNA, which leads to increased expression in caveolin 3 mRNA in lymphocytes of DMD patients compared to controls. However using SSCP, there was no evidence for tRNA(Met) gene mutation among DMD patients, and only one patient presented a mutation in the caveolin gene compared to controls.