Koichi Kato 研究室

主宰者：Koichi Kato

滋賀医科大学

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝性不整脈と遺伝性心筋症の原因究明と臨床応用に取り組んでいます。特に、心臓の電気的興奮を制御するイオンチャネルタンパク質やカルモジュリンなどの調節因子に関する遺伝子変異が、ブルガダ症候群や長QT症候群、カテコラミン誘発性多形性心室頻拍などの致死的な不整脈を引き起こす機序を解明することを目指しています。研究手法としては、患者の血液からDNAを抽出して遺伝子検査を行い、病因となる変異を同定する分子生物学的アプローチと、患者由来の人工多能性幹細胞（iPSC）から分化させた心筋細胞を用いた機能解析を組み合わせています。また、電気生理学的測定やコンピュータ予測解析により、変異がもたらすタンパク質の機能障害を詳細に調べています。これらの研究から、同じ遺伝子の変異でも、その性質（タンパク質合成の停止、機能喪失の程度など）によって患者の臨床症状や予後が異なることが明らかになっています。本研究室は、遺伝情報に基づいた精密医療の実現に向け、患者個々の変異の特性を正確に把握し、より適切な治療法や管理方針の確立に貢献しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（42 件）

[2025] Congenital Short QT Syndrome　― Review Focused on KCNQ1 p.Val141Met Variant ―
DOI: https://doi.org/10.1253/circj.cj-24-0927
[2025] Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan
DOI: https://doi.org/10.1016/j.ymgmr.2025.101227
[2025] Clinical Impact of Genetic Testing for Long QT Syndrome　― Evidence From a Nationwide LQTS Registry in Japan ―
DOI: https://doi.org/10.1253/circj.cj-25-0105
[2025] SCN5A variant type-dependent risk prediction in Brugada syndrome
DOI: https://doi.org/10.1093/europace/euaf024
[2025] SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient
DOI: https://doi.org/10.1016/j.jccase.2025.03.001
[2025] PO-05-103 CLINICAL AND GENETIC ASPECTS OF LONG-QT SYNDROME: EVIDENCE FROM A NATIONWIDE LQTS REGISTRY IN JAPAN
DOI: https://doi.org/10.1016/j.hrthm.2025.03.1501
[2025] PO-02-108 UNVEILING THE ROLE OF GENETIC TESTING IN PREDICTING LIFE-THREATENING ARRHYTHMIAS AND CARDIOMYOPATHIES IN ATRIAL FIBRILLATION PATIENTS
DOI: https://doi.org/10.1016/j.hrthm.2025.03.590
[2025] Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome　― Insights Into Splice Error Correction ―
DOI: https://doi.org/10.1253/circj.cj-25-0447
[2025] Long-term follow-up of patients with catecholaminergic polymorphic ventricular tachycardia related to a novel CALM2 variant
DOI: https://doi.org/10.1016/j.jccase.2025.09.003
[2025] Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy
DOI: https://doi.org/10.1253/circj.cj-25-0283

続きを表示（残り 32 件）

[2025] Long-Term Arrhythmic Outcomes of KCNJ2 Variant Carriers in Japan
DOI: https://doi.org/10.1161/circgen.125.005188
[2025] Iatrogenic Left Ventricular Outflow Tract to Left Atrium Fistula Mimicking Mitral Valve Prolapse
DOI: https://doi.org/10.1253/circrep.cr-25-0118
[2024] Mexiletine shortened QTc interval in an age-dependent manner but suppressed ventricular arrhythmias at all age in children with long QT syndrome type 8
DOI: https://doi.org/10.1093/eurheartj/ehae666.366
[2024] Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series
DOI: https://doi.org/10.2169/internalmedicine.1701-23
[2024] Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants
DOI: https://doi.org/10.1016/j.hrthm.2024.02.021
[2024] Response to Letter to the Editor: "How to Screen and Manage Suspected Laminopathy"
DOI: https://doi.org/10.2169/internalmedicine.3959-24
[2024] Sex-specific clinical course of young patients with Brugada syndrome
DOI: https://doi.org/10.1093/eurheartj/ehae739
[2024] Episodic long-lasting atrial standstill associated with an SCN5A variant resulting in atrial pacing failure: Is an atrial lead necessary for familial atrial standstill?
DOI: https://doi.org/10.1016/j.hrcr.2024.10.004
[2024] Vasospastic angina preceding diagnosis of arrhythmogenic cardiomyopathy in a young athlete
DOI: https://doi.org/10.1016/j.hrcr.2024.05.017
[2023] Calmodulinopathy in Japanese Children　― Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy ―
DOI: https://doi.org/10.1253/circj.cj-23-0195
[2023] The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
DOI: https://doi.org/10.1093/eurheartj/ehad655.3180
[2023] Persistent Left Superior Vena Cava with the Absence of the Right Superior Vena Cava and Atrial Appendage: Complex Pacemaker Implantation in a Patient Presenting with a Rare Vascular Anomaly
DOI: https://doi.org/10.2169/internalmedicine.2391-23
[2023] Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
DOI: https://doi.org/10.1253/circj.cj-23-0409
[2023] Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy
DOI: https://doi.org/10.1093/eurheartj/ehad655.612
[2023] Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes
DOI: https://doi.org/10.1161/circep.122.011387
[2023] Association with the nonparoxysmal atrial fibrillation duration and outcome of <scp>ExTRa</scp> Mapping‐guided rotor ablation
DOI: https://doi.org/10.1002/joa3.12897
[2023] Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome
DOI: https://doi.org/10.1093/europace/euac269
[2022] Improvement in Decline Rate of Estimated Glomerular Filtration Rate after Febuxostat Treatment in a Fabry Disease Patient with Enzyme Replacement Therapy-resistant Proteinuria
DOI: https://doi.org/10.2169/internalmedicine.8993-21
[2022] School-based routine screenings of electrocardiograms for the diagnosis of long QT syndrome.
DOI: https://doi.org/10.1093/europace/euab320
[2022] Different prognosis of ARVC patients between DSG2 and PKP2 variant carriers
DOI: https://doi.org/10.1093/eurheartj/ehac544.1753
[2022] Calmodulinopathy is a common cause of critical cardiac phenotypes in fetus and infancy
DOI: https://doi.org/10.1093/eurheartj/ehac544.667
[2022] Case report: Vascular graft infection due to Aspergillus species presenting with recurrent vascular occlusion
DOI: https://doi.org/10.1186/s12872-022-02571-3
[2022] Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome
DOI: https://doi.org/10.1016/j.jacep.2022.01.007
[2022] Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1
DOI: https://doi.org/10.1136/heartjnl-2021-320220
[2022] Successful Management of a Young Athlete with Type 2 Long QT Syndrome by Genotype-specific Risk Stratification and Bridging Therapy with a Wearable Cardioverter Defibrillator
DOI: https://doi.org/10.2169/internalmedicine.8093-21
[2022] Correlation between the CT Perfusion Parameter Values and Response to Recanalization in Patients with Acute Ischemic Stroke
DOI: https://doi.org/10.5797/jnet.oa.2022-0026
[2021] Quantitative collateral assessment evaluated by cerebral blood volume measured by CT perfusion in patients with acute ischemic stroke
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.105797
[2021] School-based routine screenings of electrocardiograms for the diagnosis of long QT syndrome
DOI: https://doi.org/10.1093/europace/euab320
[2021] An International Multicenter Cohort Study on β-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia
DOI: https://doi.org/10.1161/circulationaha.121.056018
[2021] Early onset of heart failure in Japanese ARVC patients with pathogenic desmosomal gene variants
DOI: https://doi.org/10.1093/eurheartj/ehab724.1790
[2021] Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome
DOI: https://doi.org/10.1093/europace/euab250
[2021] Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series
DOI: https://doi.org/10.1093/ehjcr/ytaa538

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AI 要約（直近 5 年の研究成果）

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関連研究室(8 件)

研究成果（42 件）

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