信大医学部医学科研究紹介2019(英語版)
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20Research on pathogenesis and development of therapies for muscular dystrophyMuscle disease research(Chief: 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. ・・Research on exon skipping therapy using iPS cells derived from DMD patients. ・ 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 μM123Challenge to elucidate the mechanisms of autoimmune disorders. To acquire the advanced medical technology and provide the advanced medical care!(Chief: Associate Prof. Yasuhiro Shimojima)Medicine III・ Establishment of effective therapeutic approaches to refractory rheumatic and colla-gen-vascular diseases.・ Elucidation of pathogenic mechanisms in refractory rheumatic and collagen-vascular dis-eases.・ Genetic diagnosis and investigation of genotype-phenotype correlation of Japanese pa-tients with familial Mediterranean fever.・ Elucidation of pathogenic mechanisms in neurological involvements related to systemic vasculitis.The immune system has protected our systemic organs from invasion by several harmful agents and pathogens. However, it can react in attacking ourselves, resulting in the occur-rence of rheumatic disease or collagen-vascular disease. Meanwhile, some patients are still refractory to the treatments. We believe that our investigation of elucidating immune-patho-genesis can develop the effective therapeutic strategy, allowing patients to be in complete remission.Technical skills and knowledges in our lab is useful for developing our career in which we work on the medical care and education as the rheumatologist. Besides, we can subse-quently study more advanced knowledge associated with immunology and rheumatology in the foreign facility for the purpose of developing our research.Research subjectOutlook for researchOutlook for students after graduationModel of muscular dystrophy(mdxmouse)Jackson Labs Abnormality in muscle regeneration with MMP-2 knockout (left lower), and increas-(right lower) in mdx mice. For the purpose of contributing to medical care, we always develop our technical skills and achieve new approaches in the research.iPS cells and cardiomyocytes (CMs) derived from a DMD patient (upper). Re-covery of dystrophin proteins after exon skipping therapy (lower: ).

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