Amyloid-Journal of Protein Folding Disorders最新文献

Cardiac amyloidosis: the possibilities and challenges in the Ghanaian setting. 心脏淀粉样变性：加纳的可能性与挑战。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-11-04 DOI: 10.1080/13506129.2024.2422458

Andrew Sefenu Dzebu, Magalys López Cuba

引用次数: 0

Amyloidosis can be diagnosed by cardiologists in Africa: now they should be given the medicine to treat it. 非洲的心脏病专家可以诊断出淀粉样变性：现在应该给他们提供治疗药物。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-11-04 DOI: 10.1080/13506129.2024.2422474

Lucio Luzzatto

引用次数: 0

Anomalous colours, not interference colours or 'apple-green birefringence', in Congo red-stained amyloid. 刚果红染色淀粉样蛋白中的异常颜色，而非干涉色或 "苹果绿双折射"。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-30 DOI: 10.1080/13506129.2024.2421427

Alexander J Howie

引用次数: 0

PRX004 in variant amyloid transthyretin (ATTRv) amyloidosis: results of a phase 1, open-label, dose-escalation study. PRX004治疗变异型淀粉样转甲状腺素（ATTRv）淀粉样变性病：1期开放标签剂量递增研究结果。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-29 DOI: 10.1080/13506129.2024.2420809

Ole B Suhr, Martha Grogan, Ana Martins da Silva, Chafic Karam, Pablo Garcia-Pavia, Brian Drachman, Wagner Zago, Radhika Tripuraneni, Gene G Kinney

{"title":"PRX004 in variant amyloid transthyretin (ATTRv) amyloidosis: results of a phase 1, open-label, dose-escalation study.","authors":"Ole B Suhr, Martha Grogan, Ana Martins da Silva, Chafic Karam, Pablo Garcia-Pavia, Brian Drachman, Wagner Zago, Radhika Tripuraneni, Gene G Kinney","doi":"10.1080/13506129.2024.2420809","DOIUrl":"https://doi.org/10.1080/13506129.2024.2420809","url":null,"abstract":"Background: The investigational monoclonal antibody PRX004 is designed to specifically target and deplete TTR amyloid. Here, we report on the safety, tolerability, pharmacokinetics, pharmacodynamics and preliminary clinical activity of PRX004 in patients with ATTRv amyloidosis.Methods: This global, multicentre, phase 1 trial comprised a 3 + 3 dose-escalation phase and a long-term extension (LTE) phase (NCT03336580). In the dose-escalation phase, patients received PRX004 (0.1, 0.3, 1, 3, 10 or 30 mg/kg), administered intravenously every 28 days for 3 months. In the LTE, eligible patients could receive up to 15 additional doses. Patients who received doses of ≥3 mg/kg for ≥9 months were assessed for Global Longitudinal Strain (GLS) and Neuropathy Impairment Score (NIS). The primary objective was to determine the maximum tolerated dose (MTD) of PRX004.Results: Overall, 21 patients with ATTRv amyloidosis completed the dose-escalation phase; 17 subsequently enrolled in the LTE. The MTD was not reached. PRX004 was well tolerated at all doses, with dose-proportional exposure. GLS and NIS were improved or maintained over 9 months (n = 7).Conclusions: PRX004 was well tolerated in patients with ATTRv amyloidosis and demonstrated potential clinical activity. A phase 2 randomised controlled trial in ATTR cardiomyopathy is ongoing (NCT05442047).","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of the iatrogenic transmission of vascular Aß40 amyloid. 一例血管 Aß40 淀粉样蛋白的先天性传播。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-29 DOI: 10.1080/13506129.2024.2419857

Takeshi Kawarabayashi, Takumi Nakamura, Shin Takatama, Naoko Miyamoto, Tomoyuki Iwai, Isao Naito, Takashi Sugawara, Kunihiko Ishizawa, Kentaro Hashimoto, Masakuni Amari, Takeshi Ikeuchi, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji

引用次数: 0

Identification of epidermal growth factor-containing fibulin-like extracellular matrix protein 1-derived amyloid deposition in a rhesus macaque. 在猕猴体内发现含表皮生长因子的纤维蛋白样细胞外基质蛋白 1 淀粉样沉积。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-29 DOI: 10.1080/13506129.2024.2421434

Matthew F Starost, Tomoaki Murakami, Kelli L Vaughan, Christopher King, Anna Harima, Julie A Mattison

引用次数: 0

Incidence and predictors of sudden death in patients with cardiac amyloidosis. 心脏淀粉样变性患者猝死的发生率和预测因素。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-24 DOI: 10.1080/13506129.2024.2414295

Fernando de Frutos, Giulia Saturi, Esther Gonzalez-Lopez, Maurizio Sguazzotti, Fernando Dominguez, Alberto Ponziani, Eva Cabrera-Romero, Angelo Giuseppe Caponetti, Sara Lozano, Paolo Massa, Belen Peiro-Aventin, Antonella Accietto, Nerea Mora-Ayestarán, Alessandro Giovannetti, Victor Castro-Urda, Christian Gagliardi, Marta Cobo-Marcos, Rafael Rios-Tamayo, Elena Biagini, Manuel Gomez-Bueno, Nazzareno Galiè, Javier Segovia-Cubero, Simone Longhi, Pablo Garcia-Pavia

{"title":"Incidence and predictors of sudden death in patients with cardiac amyloidosis.","authors":"Fernando de Frutos, Giulia Saturi, Esther Gonzalez-Lopez, Maurizio Sguazzotti, Fernando Dominguez, Alberto Ponziani, Eva Cabrera-Romero, Angelo Giuseppe Caponetti, Sara Lozano, Paolo Massa, Belen Peiro-Aventin, Antonella Accietto, Nerea Mora-Ayestarán, Alessandro Giovannetti, Victor Castro-Urda, Christian Gagliardi, Marta Cobo-Marcos, Rafael Rios-Tamayo, Elena Biagini, Manuel Gomez-Bueno, Nazzareno Galiè, Javier Segovia-Cubero, Simone Longhi, Pablo Garcia-Pavia","doi":"10.1080/13506129.2024.2414295","DOIUrl":"https://doi.org/10.1080/13506129.2024.2414295","url":null,"abstract":"Introduction: Although sudden death (SD) is a recognized complication of cardiac amyloidosis, there is scarce data about its incidence, mechanisms, and predictors. The aim of this study was to describe incidence of SD and to analyze possible risk factors.Methods: Consecutive patients with ATTR or AL cardiac amyloidosis evaluated at two European centers were identified. SD was defined as unexpected death in clinically stable patients. Cox proportional hazard regression was performed to assess risk factors in univariate analysis. Those statistically significant were then assessed through age-adjusted multivariate analysis.Results: Analysis included 784 patients, 569 with ATTR amyloidosis (mean age 74.1 ± 12.1 years) and 215 with AL amyloidosis (mean age 64.5 ± 10.8 years). After a median follow-up of 1.9 years, SD rate at 2 years was 1.8% in ATTR. Previous pacemaker implantation (PPM) was associated with increased risk after age-adjusted analysis (HR 4.97; 95%CI: 1.39-17.7; p = 0.01). SD rate in AL amyloidosis patients at 2 years was 8.0% after a median follow-up of 1.2 years. Betablockers and NYHA III-IV were independently associated with an increased risk after age-adjusted multivariate analysis (HR 7.06 95%CI (2.31-21.5) p = 0.001) and (HR 4.56 95%CI (1.51-13.8) p = 0.007) respectively.Conclusions: SD is more frequent in AL than in ATTR cardiac amyloidosis. SD is associated with different risk factors in both entities.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

AA amyloidosis in vertebrates: epidemiology, pathology and molecular aspects. 脊椎动物的 AA 淀粉样变性：流行病学、病理学和分子方面。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-20 DOI: 10.1080/13506129.2024.2417219

Valentina Moccia, Claudia Maria Tucciarone, Silvia Garutti, Melissa Milazzo, Filippo Ferri, Carlo Palizzotto, Maria Mazza, Marco Basset, Eric Zini, Stefano Ricagno, Silvia Ferro

{"title":"AA amyloidosis in vertebrates: epidemiology, pathology and molecular aspects.","authors":"Valentina Moccia, Claudia Maria Tucciarone, Silvia Garutti, Melissa Milazzo, Filippo Ferri, Carlo Palizzotto, Maria Mazza, Marco Basset, Eric Zini, Stefano Ricagno, Silvia Ferro","doi":"10.1080/13506129.2024.2417219","DOIUrl":"https://doi.org/10.1080/13506129.2024.2417219","url":null,"abstract":"AA amyloidosis is a prototypic example of systemic amyloidosis: it results from the prolonged overproduction of SAA protein produced in response to chronic inflammation. AA amyloidosis primarily affects the kidneys, liver, spleen, gastrointestinal tract, leading to a variety of symptoms. First, this review examines AA amyloidosis in humans, focusing on pathogenesis, clinical presentation, and diagnosis and then in animals. In fact AA amyloidosis is the only systemic amyloidosis that has been largely documented in a remarkable number of vertebrate species: mammals, birds, and fishes, especially in individuals with comorbidities, chronic stress, or held in captivity. Secondly, here, we summarise independent sets of evidence obtained on different animal species, exploring the possible transmissibility of AA amyloidosis especially in crowded or confined populations. Finally, biochemical and structural data on native SAA and on AA amyloid fibrils from human, murine, and cat ex vivo samples are discussed. The available structural data depict a complex scenario, where SAA can misfold forming highly different amyloid assemblies. This review highlights the complexity of AA amyloidosis, emphasising the need for further research into its spread in the animal kingdom, its structural aspects, and pathogenetic mechanisms to evaluate its impact on human and animal health.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study. 神经丝蛋白轻链作为遗传性ATTR淀粉样变性病的生物标志物--神经丝蛋白轻链与神经传导研究之间的相关性。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-10-08 DOI: 10.1080/13506129.2024.2409760

Masateru Tajiri, Mitsuto Sato, Minori Kodaira, Akira Matsushima, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima

{"title":"Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis - correlation between neurofilament light chain and nerve conduction study.","authors":"Masateru Tajiri, Mitsuto Sato, Minori Kodaira, Akira Matsushima, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima","doi":"10.1080/13506129.2024.2409760","DOIUrl":"https://doi.org/10.1080/13506129.2024.2409760","url":null,"abstract":"Background: Neurofilament light chain (NfL) is a biomarker of neuronal injury in hereditary ATTR (ATTRv) amyloidosis. However, the correlation between NfL and nerve conduction study (NCS), the standard test for ATTRv neuropathy, has not been investigated.Objective: Elucidate the correlation between NfL and NCS parameters.Methods: 227 serum NfL measurements were performed in 45 ATTRv patients, 5 asymptomatic carriers, and 12 controls. Among them, 177 simultaneous analyses of NCS and NfL were conducted in 45 ATTRv patients.Results: NfL levels of symptomatic patients were significantly higher than those of asymptomatic carriers and controls. Serum NfL levels were correlated with NCS parameters, especially compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes, indicators of axonal damage. CMAP and/or SNAP amplitudes were undetectable in 9 patients (no-amplitude group) due to advanced neuropathy. NfL levels in the no-amplitude group were significantly higher than those in patients with detectable CMAP/SNAP. NfL levels significantly decreased with patisiran, although no significant changes were observed in CMAP and SNAP.Conclusions: NfL levels are found to be correlated with CMAP/SNAP amplitudes. Compared with NCS, NfL can be a more sensitive biomarker for detecting treatment response and active nerve damage even in patients with advanced neuropathy.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. 淀粉样蛋白命名法 2024：国际淀粉样变性学会（ISA）命名法委员会的更新、新型蛋白质和建议。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-09-30 DOI: 10.1080/13506129.2024.2405948

Joel N Buxbaum, David S Eisenberg, Marcus Fändrich, Ellen D McPhail, Giampaolo Merlini, Maria J M Saraiva, Yoshiki Sekijima, Per Westermark

{"title":"Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee.","authors":"Joel N Buxbaum, David S Eisenberg, Marcus Fändrich, Ellen D McPhail, Giampaolo Merlini, Maria J M Saraiva, Yoshiki Sekijima, Per Westermark","doi":"10.1080/13506129.2024.2405948","DOIUrl":"10.1080/13506129.2024.2405948","url":null,"abstract":"The ISA Nomenclature Committee met at the XIX International Symposium of Amyloidosis in Rochester, MN, 27 May 2024. The in-person event was followed by many electronic discussions, resulting in the current updated recommendations. The general nomenclature principles are unchanged. The total number of human amyloid fibril proteins is now 42 of which 19 are associated with systemic deposition, while 4 occur with either localised or systemic deposits. Most systemic amyloidoses are caused by the presence of protein variants which promote misfolding. However, in the cases of AA and ATTR the deposits most commonly consist of wild-type proteins and/or their fragments. One peptide drug, previously reported to create local iatrogenic amyloid deposits at its injection site, has been shown to induce rare instances of systemic deposition. The number of described animal amyloid fibril proteins is now 16, 2 of which are unknown in humans. Recognition of the importance of intracellular protein aggregates, which may have amyloid or amyloid-like properties, in many neurodegenerative diseases is rapidly increasing and their significance is discussed.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0