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Fields Medical Life Sciences Information Communication Environment Nanotechnology / Materials Energy Manufacturing Technology Social Infrastructure Frontier Liberal Arts Themes Researchers JP Top Medical 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) JAPANESEINQUIRY update：2020/06/16   NEXT PREV Features and Uniqueness 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. Keywords Distal myopathy with rimmed vacuoles (DMRV) hereditary includion body myopathy (hIBM) N-acetylneuraminic acid Researchers Graduate School of Medicine Masashi Aoki, ProfessorDoctor of Medicine Laboratory Website researchmap Laboratory Website researchmap Browsing History Same Researcher Development of a Novel Therapy for Amyotrophic Lateral Sclerosis (ALS) Using Hepatocyte Growth Factor (HGF) [ 青木 正志 教授 ] User Who Reviewed This Content Also Reviewed Extracorporeal Shock Wave Therapy as a New, Non-Invasive Angiogenic Therapy [ SHIMOKAWA Hiroaki Professor ] Molecular Imaging from Basic Research to Clinical Application [ YANAI Kazuhiko Professor ] Noninvasive Ultrasonic Measurement of Dynamic Properties of Heart and Arteries [ Hiroshi Kanai Professor ] Research Profiles ©TOHOKU UNIVERSITY How to Use FAQ For Researchers Site Policy [jp] ©TOHOKU UNIVERSITY Fields Medical Life Sciences Information Communication Environment Nanotechnology / Materials Energy Manufacturing Technology Social Infrastructure Frontier Liberal Arts Fields Themes Researchers 日本語 ENGLISH Close