信大医学部研究紹介2021(英語版)_プレス品質
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19Examine, Read and Investigate BrainBrain Disease ResearchBrain Disease Research((Prof. Y SekijimaProf. Y Sekijima))Medicine IIISummary of ActivityTo research what is happening in the brain of individual patients with neurode-generative disease, we have been conducting molecular genetic, biochemical and pathological analyses. We are also aiming to develop the robotic wear to support walking, and communication assistive device.Intractable neurodegenerative diseases are now “incurable”, however, some of them would become “treatable or reparable” in the near future.・Elucidation of diagnostic molecular pathology of amyotrophic lateral sclerosis, spinocere-bellar degeneration and multiple system atrophy.・Personalized robotic-wear assisted rehabilitation for patients with cerebrovascular diseas-es and neurodegenerative diseases.・Development of communication assistive device.The elucidation of diagnostic molecular pathology leads to development of disease modifying drugs. Medical application of robot technology shall enable patients with intractable disease to move and speak freely.It’s up to you to decide which ways you will choose.Research subjectOutlook for researchOutlook for students after graduationRobotic wear curara® supports walking smoothness (a collaborative research with Faculty of Textile Science and Faculty of Engineering, Shinshu University, and Kakeyu-Misayama Rehabilitation Center)Nueropatholigical examinationCommunication support: eye tracking and electroencephalogram monitorResearch on pathogenesis and development of therapies for muscular dystrophyMuscle disease researchMuscle disease research((Chief: Prof. Akinori NakamuraChief: Prof. Akinori Nakamura))Medicine IIISummary of ActivityWe have been investigating the pathomechanisms and developing new therapies for intractable muscle diseases, especially Duchenne-type muscular dystrophy (DMD), which is the most common type. The patients are diagnosed by muscle biopsy, protein analysis, and gene analysis at our institution. We have also been developing gene therapies, such as exon skipping using iPS cells derived from patients with muscular dystrophy, and studying the pathogenesis of muscle dam-age and regeneration using a mouse model (mdx mice). Several new treatments are now in clinical testing and are expected to be released in the near future.・Diagnosis, gene analysis, and clinical trials for muscular dystrophy. ・Studies on muscular dystrophy with exon 45―55 deletion in the DMD gene.・Research on exon skipping therapy using iPS cells derived from DMD patients. ・Research on the function of matrix-metalloproteinase (MMP)―2, and MMP―9 in muscle damage and regeneration in mdx mice.Almost all muscular dystrophies are progressive and incurable. However, we will uncover the pathogenesis and develop new treatment approaches by applying recent advances in genet-ic knowledge and molecular biological techniques using animal models and iPS cells. We are striving to create the most effective and safest therapies for muscular dystrophies worldwide. Research subjectOutlook for research(I. Nonaka, in Muscle Pathology)Duchenne-type muscular dystrophy (DMD)The most common muscular dystrophyOnset: Walking abnormality from 2-5 y.o.Symptoms: Progressive muscular atrophy and muscle weakness. Severe heart and respiratory failure are common and fatal. Normal muscleDMD patient’s muscleDystrophin stainH&EClinical features of DMD. Muscle pathology in DMD patient (H&E) and a lack of dystro-phin (Dystrophin stain). DMD-iPSCsDMD-iPSC-CMsAO (-)123AO (+) 10 μM123Model of muscular dystrophy(mdxmouse)Jackson Labs Abnormality in muscle regeneration with MMP-2 knockout (left lower), and increas-ing muscle brosis with MMP-9 knockout (right lower) in mdx mice. iPS cells and cardiomyocytes (CMs) derived from a DMD patient (upper). Re-covery of dystrophin proteins after exon skipping therapy (lower: ). DMD-iPSCsDMD-iPSC-CMsAO (-)123AO (+) 10 μM123

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