494847454644)g( thgewydoB / )g( ecroFWT i6420132(I. Nonaka, in Muscle Pathology)RT-PCRexW45-T47 .del.RT-PCRex45-48 del.Duchenne muscular dystrophy (DMD)Becker muscular dystrophy (BMD)caused by the mutation in DMDgeneSymptoms: Progressive muscular atrophy and muscle weakness. Severe heart and respiratory failure are common and fatal. H&ENormal muscleH&EDifficulty standing (Gower’s sign)ジストロフィンDystrophin249.5 kb guide RNA (intron44)40.7 kb 60.8 kb guide RNA (intron47)ex45-48del. miceex45-49del. miceex45-47del. miceAO (-)2RT-PCRexW45-T49 .del.52.2 kb 6.2 kb guide RNA (intron48)50guide RNA (intron49)Forelimb gripAO (+) 10 μM13Robotic wear curara? supports walking smoothness (a collaborative research with Faculty of Textile Science and Faculty of Engineering, Shinshu University, and Kakeyu-MisayamaRehabilitation Center)NueropatholigicalexaminationCommunication support: eye tracking and electroencephalogram monitorClinical features of DMD and BMD. GenerationofBMDmiceusinggenomeediting,andconfirmationofthedifferencesinseveritybetweeneachdeletionsinBMDmice.DMD-iPSCsDMD-iPSC-CMsiPSCs and cardiomyocytes derived from a DMD patient (left). Recovery of dystrophin proteins after exon skipping therapy (right: ). DMD patient’s muscleMedicineⅢMedicineⅢ13Research subjectResearch subject?Diagnosis, gene analysis, and clinical trials for muscular dystrophy. ?Studies on muscular dystrophy with exon 45―55 deletion in the DMDgene.?Research on exon skipping therapy using iPSCs derived from DMD patients. ?Research on the pathomechanisms of the BMD severities associated with Outlook for researchAlmostallmusculardystrophiesareprogressiveandincurable.However,wewilluncoverthepathogenesisanddevelopnewtreatmentapproachesbyapplyingrecentadvancesingeneticknowledgeandmolecularbiologicaltechniquesusinganimalmodelsanddisease-specificiPSCs.Wearestrivingtocreatethemosteffectiveandsafesttherapiesformusculardystrophiesworldwide.Brain Disease ResearchChief：prof.YoshikiSekijimaMuscle disease researchChief：Prof. AkinoriNakamuraExamine, Read and Investigate BrainResearch on pathogenesis and development of therapies for muscular dystrophyToresearchwhatishappeninginthebrainofindividualpatientswithneurodegenerativedisease,wehavebeenconductingmoleculargenetic,biochemicalandpathologicalanalyses.Wearealsoaimingtodeveloptheroboticweartosupportwalking,andcommunicationassistivedevice.Intractableneurodegenerativediseasesarenow“incurable”,however,someofthemwouldbecome“treatableorreparable”inthenearfuture.?Elucidation of diagnostic molecular pathology of amyotrophic lateral sclerosis, spinocerebellar degeneration and multiple system atrophy.?Personalized robotic-wear assisted rehabilitation for patients withcerebrovascular diseases and neurodegenerative diseases.?Development of communication assistive device.Outlook for researchTheelucidationofdiagnosticmolecularpathologyleadstodevelopmentofdiseasemodifyingdrugs.Medicalapplicationofrobottechnologyshallenablepatientswithintractablediseasetomoveandspeakfreely.Outlook for students after graduationIt's up to you to decide which ways you will choose.Wehavebeeninvestigatingthepathomechanismsanddevelopingnewtherapiesforintractablemusclediseases,especiallyDuchenne-typemusculardystrophy(DMD)andBeckermusculardystrophy(BMD).Patientsarediagnosedbymusclebiopsy,proteinanalysis,andgeneanalysisatourinstitution.Wehavealsobeendevelopinggenetherapies,suchasexonskipping,usingiPScells(iPSCs)derivedfrompatientswithmusculardystrophy,andstudyingthepathomechanismsofthechangesindiseaseseverityusinggenome-editingmousemodelsofmusculardystrophy.Severalnewtreatmentsarenowinclinicaltestingandareexpectedtobereleasedinthenearfuture.exondeletions using genome-editing BMD mice.
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