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  • Amyotrophic lateral sclerosis (ALS),Muscular dystrophy,Distal myopathy with rimmed vacuoles (DMRV)/ hereditary inclusion body myopathy (hIBM)

Amyotrophic lateral sclerosis (ALS),Muscular dystrophy,Distal myopathy with rimmed vacuoles (DMRV)/ hereditary inclusion body myopathy (hIBM)

update：2020-06-16
 
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Distal myopathy with rimmed vaculoles (DMRV) / hereditary inclusion body myopathy (hIBM) is an autosomal recessive disorder characterized clinically by the preferential involvement of the tibialis anterior muscle. It is known that the disease gene underlying DMRV is GNE, encoding glucosamine (UDP-N-acetyl)-2- epimerase and N-acetylmannosamine kinase, two essential enzymes in sialic acid biosynthesis. Decreased sialic acid production causes muscle degeneration. Muscle atrophy and weakness are completely prevented in a mouse model of DMRV after treatment with sialic acid metabolites orally.
The aim of this study is to investigate pharmacokinetics and safety of N-acetylneuraminic acid (figure) in patients with DMRV. N-acetylneuraminic acid and N-glycolylneuraminic acid in serum and urine are measured before and after oral administration of N-acetylneuraminic acid. We are prepared to provide academic consultations to companies interested in our research.

Researchers

Department of Neurology, Graduate School of Medicine

AOKI Masashi , Professor
Doctor of Medicine

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