Amyloid-Journal of Protein Folding Disorders最新文献

{"title":"Amyloidosis can be diagnosed by cardiologists in Africa: now they should be given the medicine to treat it.","authors":"Lucio Luzzatto","doi":"10.1080/13506129.2024.2422474","DOIUrl":"10.1080/13506129.2024.2422474","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"247-248"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569869","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}

{"title":"ELISA-4-amyloid: diagnostic accuracy of an ELISA panel for typing the four main types of systemic amyloidosis in subcutaneous abdominal fat tissue samples.","authors":"Johan Bijzet, Hans L A Nienhuis, Bart-Jan Kroesen, Arjan Diepstra, Bouke P C Hazenberg","doi":"10.1080/13506129.2024.2385977","DOIUrl":"10.1080/13506129.2024.2385977","url":null,"abstract":"<p><strong>Background: </strong>Reliable typing of amyloid is essential. Amyloid extraction from tissue enables immunochemical typing of the precursor protein using an enzyme-linked immunosorbent assay (ELISA).</p><p><strong>Objective: </strong>To assess the diagnostic accuracy of a panel of ELISAs for typing the four main types (AA, ATTR, AL-kappa and AL-lambda amyloid).</p><p><strong>Methods: </strong>From 1996 to 2023 subcutaneous abdominal fat tissue aspirates were obtained from 1339 amyloidosis patients and 868 controls. Amyloid was visually graded 0-4+ in Congo red-stained smears. Amyloid extracted from tissue by Guanidine was typed using a panel comprising four ELISAs.</p><p><strong>Results: </strong>All amyloid protein concentrations in extracts correlated with amyloid grade in smears. Typing sensitivity was low (23.3%) in samples with grade 1+/2+ amyloid. Overall typing sensitivity of the panel was 81.6% for all easily visible amyloid (grade 3+/4+): high for AA (98.8%) and ATTR (96.8%) and fair for AL-kappa (66.7%) and AL-lambda (75.9). Overall typing specificity was 98.0% and the overall positive predictive value was 98.0%.</p><p><strong>Conclusions: </strong>We describe a highly specific ELISA panel for routine typing of the main amyloid types in fat tissue. Until more sensitive typing techniques will become generally available, typing easily visible amyloid in fat tissue using this ELISA panel is reliable, affordable and straightforward.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"275-284"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894818","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}

{"title":"Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.","authors":"Qingping Wang, Mengdie Wang, Xiying Zhu, Lei Liu, Mengli Wang, Jialu Sun, Xiaobo Li, Shunxiang Huang, Wanqian Cao, Yu Liu, Ruxu Zhang","doi":"10.1080/13506129.2024.2383467","DOIUrl":"10.1080/13506129.2024.2383467","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein.</p><p><strong>Methods: </strong>Fifteen ATTRv-PN patients with heterozygous A97S and one patient with homozygous A97S were included in the study. Serum TTR tetramer concentration was quantified through ultra-performance liquid chromatography. Stabilities of A97S-TTR were assessed through <i>in vitro</i> urea-mediated tryptophan fluorescence experiments, and nephelometry was employed in drug response assessment.</p><p><strong>Results: </strong>All patients were late-onset (≥50 years) with a mean age of onset at 59.26 ± 5.06 years old. Patients displayed a mixed phenotype featuring sensory-motor neuropathy with autonomic dysfunction and cardiac involvement, such as palpitations and chest pain. Electrophysiological studies showed generally axonal impairment of sensory and motor nerves. Tafamidis-treated patients showed significantly higher TTR tetramer concentrations, approaching healthy controls' levels. <i>In vitro</i> assessment showed that A97S-TTR was more kinetically stable than the V122I-TTR, and tetramer stabilisers inhibited A97S-TTR amyloid formation by more than 70%.</p><p><strong>Conclusion: </strong>This study provides valuable insights into the clinical and molecular characteristics of ATTRv-PN patients with A97S from South China, particularly regarding the differences in disease progression and stability features.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"266-274"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857051","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}

{"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":"10.1080/13506129.2024.2409760","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>Elucidate the correlation between NfL and NCS parameters.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"326-333"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","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}

{"title":"Glaucoma is not seen at a higher prevalence in age-related transthyretin amyloidosis after race stratification.","authors":"Noel Estrada-Merly, Mathew S Maurer, Anita D'Souza","doi":"10.1080/13506129.2024.2379394","DOIUrl":"10.1080/13506129.2024.2379394","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"339-341"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11598661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No body fits in the test tube - the case of transthyretin.","authors":"Seweryn Ulaszek, Barbara Wiśniowska, Bartek Lisowski","doi":"10.1080/13506129.2024.2401154","DOIUrl":"10.1080/13506129.2024.2401154","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"347-349"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156571","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}

{"title":"Refining prognostication in systemic AL amyloidosis: limited value of dFLC.","authors":"Jahanzaib Khwaja, Sriram Ravichandran, Joshua Bomsztyk, Oliver Cohen, Darren Foard, Ana Martinez-Naharro, Lucia Venneri, Marianna Fontana, Carol Whelan, Philip N Hawkins, Julian D Gillmore, Helen J Lachmann, Shameem Mahmood, Ashutosh Wechalekar","doi":"10.1080/13506129.2024.2406845","DOIUrl":"10.1080/13506129.2024.2406845","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"353-355"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300193","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}

{"title":"T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy.","authors":"Anysia Poncelet, Ute Hegenbart, Stefan O Schönland, Georges Sam, Jan C Purrucker, Ernst Hund, Fabian Aus dem Siepen, Kira Göldner, John M Hayes, Sabine Heiland, Martin Bendszus, Markus Weiler, Jennifer C Hayes","doi":"10.1080/13506129.2024.2398453","DOIUrl":"10.1080/13506129.2024.2398453","url":null,"abstract":"<p><strong>Background: </strong>Previously, T2-relaxation time (T2_app) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).</p><p><strong>Methods: </strong>Eighty participants with pathologic variants of the <i>transthyretin</i> gene (<i>TTRv</i>) and 40 controls prospectively underwent magnetic resonance neurography. T2-relaxometry was performed, allowing to calculate tibial ρ, T2_app and cross-sectional-area (CSA). Detailed clinical examinations and NCS of tibial and peroneal nerves were performed.</p><p><strong>Results: </strong>Forty participants were classified as asymptomatic <i>TTRv</i>-carriers, 40 as symptomatic patients with polyneuropathy. ρ, T2_app and CSA were significantly higher in symptomatic ATTRv amyloidosis (484.2 ± 14.8 a.u.; 70.6 ± 1.8 ms; 25.7 ± 0.9 mm²) versus <i>TTRv-</i>carriers (413.1 ± 9.4 a.u., <i>p</i> < 0.0001; 62.3 ± 1.3 ms, <i>p</i> = 0.0002; 19.0 ± 0.8 mm², <i>p</i> < 0.0001) and versus controls (362.6 ± 7.5 a.u., <i>p</i> < 0.0001; 59.5 ± 1.0 ms, <i>p</i> < 0.0001; 15.4 ± 0.5 mm², <i>p</i> < 0.0001). Only ρ and CSA differentiated <i>TTRv-</i>carriers from controls. ρ and CSA correlated with NCS in <i>TTRv</i>-carriers, while T2_app correlated with NCS in symptomatic ATTRv amyloidosis. Both ρ and T2_app correlated with clinical score.</p><p><strong>Conclusion: </strong>ρ and CSA can detect early nerve injury and correlate with electrophysiology in asymptomatic <i>TTRv</i>-carriers. T2_app increases only in symptomatic ATTRv amyloidosis in whom it correlates with clinical scores and electrophysiology. Our results suggest that T2-relaxometry can provide biomarkers for disease- and therapy-monitoring in the future.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"309-317"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121105","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}

{"title":"Prognostic value of CMR-derived extracellular volume in AL amyloidosis: a multicenter study.","authors":"Martin Nicol, Cassiel Kitzinger, Mathilde Baudet, Alyssa Faradji, Théo Pezel, David Lavergne, Arnaud Jaccard, Giuseppe Vergaro, Alberto Aimo, Michele Emdin, Stephanie Harel, Bruno Royer, Alexis Talbot, Valérie Bousson, Laurent Macron, Bertrand Arnulf, Damien Logeart","doi":"10.1080/13506129.2024.2406842","DOIUrl":"10.1080/13506129.2024.2406842","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the prognostic value of cardiac magnetic resonance (CMR) variables and compare them with biological and echocardiographic markers in patients with AL cardiac amyloidosis (CA).</p><p><strong>Methods: </strong>We conducted a prospective study across three tertiary centres, where patients underwent clinical examination, blood tests, echocardiography, and CMR. The primary endpoint was all-cause mortality.</p><p><strong>Results: </strong>A total of 176 patients with AL CA were included, with a median age of 68 years (IQR 58-75). According to the 2004 Mayo Clinic staging, 121 patients (69%) were in stage 3. During a median follow-up of 22 months (IQR 8-48), 45 patients died, and 55 were hospitalized for heart failure. Patients who died had higher NT-proBNP and troponin levels, and lower LVEF, cardiac output, and longitudinal strain. Among CMR variables, extracellular volume (ECV) was most strongly associated with all-cause mortality. In multivariate Cox models, including Mayo Clinic staging, ECV ≥ 0.45 was independently associated with mortality (HR 2.36, CI 95% 1.47-5.60) and also with heart failure hospitalizations (HR 4.10, 95%CI 2.15-8.8).</p><p><strong>Conclusion: </strong>ECV is a powerful predictor of outcomes in AL CA, providing additional prognostic value on top of Mayo Clinic staging.</p>","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"318-325"},"PeriodicalIF":5.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331813","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}

{"title":"In memoriam: Lawreen Connors, Ph.D.","authors":"Vaishali Sanchorawala, Martha Skinner","doi":"10.1080/13506129.2024.2432979","DOIUrl":"https://doi.org/10.1080/13506129.2024.2432979","url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-2"},"PeriodicalIF":5.2,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741275","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}