| Budget Amount *help |
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Research Abstract |
Distal myopathy with rimmed vacuoles (DMRV), an early adult-onset progressive myopathy, is caused by mutations in the GNE gene. The pathomechanism that impairment of GNE expressed ubiquitously in vivo leads to myopathy remains to be elucidated. Yeast two-hybrid experiments with recombinant GNE proteins as the bait and with cDNA library from the human skeletal muscle as the prey screened 18 candidate proteins. These candidate proteins include a protein believed to cause hereditary myopathy and a protein expressed specifically in the myofiber.Double-labeled immunofluorescence showed co-localization of GNE and a candidate protein in the myofiber of the mouse skeletal muscle. These results suggest that GNE have a specific role in the muscle by interacting with the GNE-binding protein expressed selectively in the myofiber. Future study of the interaction between GNE and these candidate proteins will contribute to elucidate the specific function of GNE in the muscle.
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