慶應義塾研究者情報データベース

論文 【 表示 ／ 非表示 】

論文 【 表示 ／ 非表示 】

• Long-term Follow-up of Qing-Dai–Induced Pulmonary Arterial Hypertension: A Case Series

  Matsushima T., Hiraide T., Momoi M., Shinya Y., Anzai A., Inami T., Fukuda K., Kataoka M., Ieda M.

  CJC Open 5 （ 10 ） 779 - 783 2023年10月

  • Access to Document (DOI)

• Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients

  Miyama H., Katsumata Y., Momoi M., Ichihara G., Fujisawa T., Endo J., Kawakami T., Kataoka M., Yuasa S., Sano M., Sato K., Fukuda K.

  Cardiology Research and Practice 2023 2023年

  ISSN  20908016

  　概要を見る

  Definitive diagnosis of familial hypercholesterolemia (FH) is paramount for the risk management of patients and their relatives. The present study aimed to investigate the frequency of gene variants contributing to low-density lipoprotein cholesterol (LDL-C) metabolism and their clinical relevance in patients with early-onset coronary artery disease (EOCAD). Among 63 consecutive patients with EOCAD (men <55 years or women <65 years) who underwent percutaneous coronary intervention (PCI) from 2013 to 2019 at Keio University Hospital, 52 consented to participate in this retrospective study. Targeted sequencing of LDLR, PCSK9, APOB, and LDLRAP1 was performed. Of the 52 patients enrolled (42 men; mean age: 50 ± 6 years), one (LDLR, c.1221_1222delCGinsT) harbored a pathogenic mutation, and one (APOB, c.10591A>G) harbored variants of uncertain significance. Both the patients harboring the variants were male, showing no history of diabetes mellitus or chronic kidney disease, no family history of EOCAD, and no physical findings of FH (i.e., tendon xanthomas or Achilles tendon thickening). Patients harboring the LDLR variant had three-vessel disease, were on a statin prescription at baseline, and had stable LDL-C levels; however, the case showed a poor response to the intensification of medication after PCI. Approximately 3.8% of patients with EOCAD harbored variants of gene related to LDL-C metabolism; there were no notable indicators in the patients' background or clinical course to diagnose FH. Given the difficulty in diagnosing FH based on clinical manifestations and family history, genetic testing could enable the identification of hidden risk factors and provide early warnings to their relatives.

  • Access to Document (DOI)

• The complement C3-complement factor D-C3a receptor signalling axis regulates cardiac remodelling in right ventricular failure

  Ito S., Hashimoto H., Yamakawa H., Kusumoto D., Akiba Y., Nakamura T., Momoi M., Komuro J., Katsuki T., Kimura M., Kishino Y., Kashimura S., Kunitomi A., Lachmann M., Shimojima M., Yozu G., Motoda C., Seki T., Yamamoto T., Shinya Y., Hiraide T., Kataoka M., Kawakami T., Suzuki K., Ito K., Yada H., Abe M., Osaka M., Tsuru H., Yoshida M., Sakimura K., Fukumoto Y., Yuzaki M., Fukuda K., Yuasa S.

  Nature Communications 13 （ 1 ）  2022年12月

  　概要を見る

  Failure of the right ventricle plays a critical role in any type of heart failure. However, the mechanism remains unclear, and there is no specific therapy. Here, we show that the right ventricle predominantly expresses alternative complement pathway-related genes, including Cfd and C3aR1. Complement 3 (C3)-knockout attenuates right ventricular dysfunction and fibrosis in a mouse model of right ventricular failure. C3a is produced from C3 by the C3 convertase complex, which includes the essential component complement factor D (Cfd). Cfd-knockout mice also show attenuation of right ventricular failure. Moreover, the plasma concentration of CFD correlates with the severity of right ventricular failure in patients with chronic right ventricular failure. A C3a receptor (C3aR) antagonist dramatically improves right ventricular dysfunction in mice. In summary, we demonstrate the crucial role of the C3-Cfd-C3aR axis in right ventricular failure and highlight potential therapeutic targets for right ventricular failure.

  • Access to Document (DOI)

• Percutaneous coronary intervention in a patient with homozygous RNF213 variant

  Yashima F., Momoi M., Kawakami T., Katsumata Y.

  European Heart Journal - Case Reports 6 （ 9 ）  2022年09月

  • Access to Document (DOI)

• TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension

  Hiraide T., Suzuki H., Shinya Y., Momoi M., Inami T., Katsumata Y., Fukuda K., Kosaki K., Kataoka M.

  CJC Open 4 （ 4 ） 416 - 419 2022年04月

  　概要を見る

  Recent studies have illuminated the importance of tet-methylcytosine-dioxygenase-2 (TET2) in pulmonary arterial hypertension (PAH). We aimed to clarify the frequency of TET2 variants in Japanese PAH patients. Among whole-exome sequencing of 145 Japanese patients with idiopathic or heritable PAH, 3 patients (2.1%) had a germline heterozygous missense variant in TET2 (c.3116C > T, p.Ser1039Leu). The allele frequency is 0.15% in the gnomAD database, and 0.2% among 3554 in the general Japanese population. These 3 patients needed combination therapy including continuous prostacyclin infusion. Our study identified a novel TET2 variant, and TET2 may have effects on the onset and/or disease progression of PAH.

  • Access to Document (DOI)

全件表示 >>

総説・解説等 【 表示 ／ 非表示 】

総説・解説等 【 表示 ／ 非表示 】

• RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies

  Hiraide T., Suzuki H., Momoi M., Shinya Y., Fukuda K., Kosaki K., Kataoka M.

  Life 12 （ 4 ）  2022年04月

  　概要を見る

  The ring finger protein 213 gene (RNF213) encodes a 590 kDa protein that is thought to be involved in angiogenesis. This gene was first recognized as a vasculopathy-susceptibility locus through genome-wide association studies undertaken in a Japanese population, demonstrating that heterozygotes for RNF213 p.Arg4810Lys (c.14429G>A, rs112735431) had a greatly increased risk of moyamoya disease. The association of RNF213 p.Arg4810Lys as a susceptibility variant of moyamoya disease was reproduced in Korean and Chinese individuals and, later, in Caucasians. Variants of the RNF213 gene have been linked to a number of vascular diseases such as moyamoya disease, intracranial major artery stenosis, pulmonary arterial hypertension, and peripheral pulmonary artery stenosis, and have also been associated with co-occurrent diseases and vascular disease in different organs. Based on the findings that we have reported to date, our paper proposes a new concept of “RNF213-associated vascular disease” to unify these conditions with the aim of capturing patients with multiple diseases but with a common genetic background. This concept will be highly desirable for clarifying all of the diseases in the RNF213-associated vascular disease category by means of global epidemiological investigations because of the possibility of such diseases appearing asymptomatically in some patients.

  • Access to Document (DOI)

• Pulmonary arterial hypertension caused by AhR signal activation protecting against colitis

  Hiraide T., Teratani T., Uemura S., Yoshimatsu Y., Naganuma M., Shinya Y., Momoi M., Kobayashi E., Hakamata Y., Fukuda K., Kanai T., Kataoka M.

  American Journal of Respiratory and Critical Care Medicine 203 （ 3 ） 385 - 388 2021年02月

  ISSN  1073449X

  • Access to Document (DOI)