Publications by authors named "Jun Goto"

Background: Coronary artery disease (CAD) is a major cause of mortality worldwide. Serum carboxyl-terminal telopeptide of type I collagen (CITP), a marker of collagen degradation in the heart and blood vessels, is associated with plaque vulnerability and cardiac remodeling in patients with acute myocardial infarction. However, the effect of CITP on the clinical outcomes of patients with CAD has not yet been elucidated.

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Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.

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Background: Doxorubicin-induced cardiotoxicity is still an important medical problem associated with a high mortality rate in cancer survivors. p53 plays a key role in doxorubicin-induced cardiotoxicity. Diacylglycerol kinase ζ (Dgkζ), a 130-kDa enzyme abundant in cardiomyocytes, regulates the p53 protein expression level in neurons.

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We investigated potential germline-specific radiosensitive biomarkers in the testes of large Japanese field mice (Apodemus speciosus) exposed to low-dose-rate (LDR) radiation after the Fukushima accident. Fukushima wild mice testes were analysed via RNA-sequencing to identify genes differentially expressed in the breeding and non-breeding seasons when compared to controls. Results revealed significant changes during the breeding season, with Lsp1 showing a considerable upregulation, while Ptprk and Tspear exhibited significant reductions.

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Purpose: To determine the frequency and clinical impact of loss-of-interruption (LOI) and duplication-of-interruption modifier variants of the HTT CAG and CCG repeat in a cohort of individuals with Huntington disease (HD).

Methods: We screened symptomatic HD participants from the UBC HD Biobank and 5 research sites for sequence variants. After variant identification, we examined the clinical impact and frequency in the reduced penetrance range.

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Article Synopsis
  • - The study investigates a novel variant in the TANK binding kinase 1 (TBK1) gene, linked to familial cases of amyotrophic lateral sclerosis (ALS) and parkinsonism in two siblings.
  • - One sibling had classical ALS, while the other exhibited symptoms of a unique syndrome combining ALS and parkinsonism, supported by thorough clinical evaluations.
  • - Genetic analysis identified an unknown splice site variant causing abnormal TBK1 splicing and degradation, highlighting the gene's significance in neurodegenerative diseases and the importance of further research and screening for similar variants.
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BACKGROUND Virtual reality (VR)-guided GC simulation for patients with anatomical anomalies using cardiac computed tomography (CT) has been recently reported. Rotational atherectomy (RA) for the left circumflex (LCX) ostium is challenging due to the tortuous anatomy, acute angulation, and variable vessel size compared to other lesions. The appropriate positioning and coaxiality of the guide catheter (GC) are key factors for safely performing RA.

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Background: Drug-eluting stents (DES) are the major treatment option in percutaneous coronary intervention (PCI). Recently, drug-coated balloon (DCB) utilization has been increasing globally, leading to the expected new strategy of "stent-less PCI." This study aimed to evaluate the one-year outcome of DCB compared to DES.

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  • The study focused on understanding the genetic basis of early-onset ALS, a severe neurodegenerative disease, by analyzing families with members diagnosed before the age of 40.
  • Research methods included whole-exome sequencing and biochemical assessments, leading to the identification of gene variants in SPTLC2 that are linked to elevated sphingolipid production in early-onset ALS patients.
  • Findings suggest a connection between specific genetic mutations and disrupted sphingolipid metabolism, contributing to ALS development and highlighting the genetic complexity of the disease.
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  • - The study investigates a simplified method for conducting behavioral analysis in animal research, specifically using Wistar rats to overcome challenges posed by specialized equipment.
  • - Rats were filmed in a rearing cage from two angles, with video analysis done using ImageJ software to track distance traveled and measure activity and inactivity times.
  • - The results indicated high reliability for the method through calculated intraclass correlation coefficients, confirming that this easily accessible approach is effective for assessing animal behavior.
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  • A genome-wide association study (GWAS) on multiple system atrophy (MSA) was conducted using data from various populations including Japanese, Korean, Chinese, European, and North American samples.
  • The study identified a significant genetic variant, rs2303744 on chromosome 19, which showed strong association with MSA in East Asian populations and was also significant in European/North American samples despite differences in allele frequencies.
  • The associated variant leads to an amino acid change in the cPLA2γ enzyme, resulting in reduced enzymatic activity that could disrupt biological processes involving membrane phospholipids and α-synuclein, potentially contributing to the disease's development.
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[Purpose] The purpose of this study was to investigate the effects of glucose intake on physical function in a heart failure rat model. [Materials and Methods] Five-week-old male Wistar rats were used for this study. Monocrotalin (40 mg/kg) was administered intraperitoneally to rats to induce heart failure.

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Background: Despite a reduction in the rate of thrombotic events, ischemic heart disease (IHD) remains a key medical problem associated with high major bleeding and mortality in Asian patients with IHD. Growth differentiation factor (GDF)-15, a stress-response cytokine belonging to the transforming growth factor beta superfamily, is reportedly associated with poor clinical outcomes in Western patients with IHD. However, the clinical significance of GDF-15 in Asian patients with IHD has not yet been fully elucidated.

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Background: Septic cardiomyopathy is a common complication of septic shock and organ dysfunction. ITCH is a HECT (homologous to the E6-AP carboxyl-terminus)-type ubiquitin E3 ligase that plays a critical role in inflammatory suppression. Herein, we focused on the interaction between ITCH and key regulators of nuclear factor-κB (NF-κB), such as tumor necrosis factor receptor-associated factor 6 (TRAF6) and transforming growth factor-β activated kinase 1 (TAK1), and examined the impact of ITCH on the development of septic cardiomyopathy.

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Objective: Maintaining a level of functional capacity is essential for healthy aging. In this research, the association between the change in the level of functional capacity and social network typology was explored over a two-year period. Participants were recruited from a community-based cohort study within Kashiwa City, Japan, and data from the years 2016 and 2018 were used.

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Introduction/aims: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). In contrast to broadening of our knowledge on the genetic background of OPDM, what we know of the clinical phenotype of genetically confirmed OPDM1 remains limited.

Methods: This investigation was a single-center case series study of OPDM consisting of ten patients from seven families.

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Article Synopsis
  • Decreased activities of daily living (ADL) increase the risk of cardiovascular disease and are linked to lower rates of PCI implementation and higher mortality in acute myocardial infarction (AMI) patients.
  • Patients were analyzed in three groups based on ADL impairment, revealing that older individuals with impaired ADL had worse outcomes, including higher acute mortality and less likelihood of receiving PCI.
  • The study concluded that impaired ADL is an independent risk factor for both short- and long-term mortality in AMI patients, highlighting its significance in clinical assessments and interventions.
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Objective: This study aimed to elucidate the molecular features of inclusion body myositis (IBM).

Methods: We performed RNA sequencing analysis of muscle biopsy samples from 67 participants, consisting of 58 myositis patients with the pathological finding of CD8-positive T cells invading non-necrotic muscle fibers expressing major histocompatibility complex class I (43 IBM, 6 polymyositis, and 9 unclassifiable myositis), and 9 controls.

Results: Cluster analysis, principal component analysis, and pathway analysis showed that differentially expressed genes and pathways identified in IBM and polymyositis were mostly comparable.

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Autoantibodies against 3‑hydroxy-3-methylglutaryl-CoA reductase (HMGCR) and the signal recognition particle (SRP) are representative antibodies causing immune-mediated necrotizing myopathies (IMNM), called as anti-HMGCR and anti-SRP myopathies, respectively. Here, we analyzed the differences in routine blood test results between 56 anti-HMGCR and 77 anti-SRP myopathy patients. A higher alanine transaminase (ALT) level and a lower aspartate transaminase (AST)/ALT ratio were observed in anti-HMGCR myopathy patients [ALT, 265.

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Background: Nephronophthisis (NPHP) 4 gene encoding nephrocystin-4, which contributes to end-stage renal disease in children and young adults, is involved in the development of the heart and kidneys. Cardiorenal syndrome (CRS), which consists of bidirectional dysfunction of the heart and kidneys, is a risk factor for cardiovascular events. Single-nucleotide polymorphisms (SNPs) within the NPHP4 gene are reportedly associated with kidney function, even in adults.

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Despite improvements in the survival rate of acute myocardial infarction (AMI), out-of-hospital cardiac arrest (OHCA) due to AMI is still a devastating condition. Thrombolysis in myocardial infarction (TIMI) grade is used to classify coronary reperfusion after percutaneous coronary intervention (PCI), but it remains unclear whether TIMI grade after emergent PCI is associated with short-term mortality in patients with AMI who have suffered OHCA. We analyzed data collected from 2012 to 2017 and recorded in the Yamagata AMI registry, which is a multicenter surveillance conducted in all institutions in Yamagata prefecture.

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Despite advances in medicine, cardiac disease remains an increasing health problem associated with a high mortality rate. Maladaptive cardiac remodeling, such as cardiac hypertrophy and fibrosis, is a risk factor for heart failure; therefore, it is critical to identify new therapeutic targets. Failing heart is reported to be associated with hyper-ubiquitylation and impairment of the ubiquitin-proteasome system, indicating an importance of ubiquitylation in the development of cardiac disease.

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Aging increases the risk of social isolation, which could lead to conditions such as depressive mood. Pet ownership is known to reduce social isolation. However, previous studies have mainly focused on mammals as pets, which could be difficult at old age.

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Reduction of elastin in the skin causes various skin diseases as well as wrinkles and sagging with aging. Sialidase is a hydrolase that cleaves a sialic acid residue from sialoglycoconjugate. Cleavage of sialic acid from microfibrils by the sialidase isozyme Neu1 facilitates elastic fiber assembly.

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