Amyloid-Journal of Protein Folding Disorders最新文献_第3页

Hereditary transthyretin amyloidosis with cardiomyopathy and polyneuropathy associated with a novel pathogenic TTR Tyr105His (p.Tyr125His) mutation. 遗传性转甲状腺蛋白淀粉样变性合并心肌病和多神经病变与一种新的致病性TTR Tyr105His （p.t r125his）突变相关。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-08-06 DOI: 10.1080/13506129.2025.2543815

Masahiro Nakamori, Keisuke Tachiyama, Naoe Matsumura, Akemi Hironaka, Yuji Muraoka, Toshiro Kitagawa, Masayoshi Tasaki, Shiori Yamakawa, Mitsuharu Ueda, Hirofumi Maruyama

引用次数: 0

Expanding the clinical spectrum of lysozyme-derived amyloidosis. 扩大溶菌酶衍生淀粉样变性的临床范围。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-24 DOI: 10.1080/13506129.2025.2533930

Marie Robert, Yasmine Serrar, Thibaud Mathis, Thomas Barba, Olivier Thaunat, Arnaud Hot, Laurent Kodjikian

引用次数: 0

A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges. atr - val30met淀粉样变性伴轻脑膜累及的急性脊髓病1例：病理生理学见解和即将到来的治疗挑战。

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-20 DOI: 10.1080/13506129.2025.2533921

Obay Alalousi, Thierry Gendre, Blanche Bapst, Violaine Planté-Bordeneuve

引用次数: 0

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study. 遗传性转甲状腺蛋白淀粉样变在西班牙的遗传景观：一项多中心回顾性研究。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-07 DOI: 10.1080/13506129.2025.2527830

Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana

{"title":"Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana","doi":"10.1080/13506129.2025.2527830","DOIUrl":"https://doi.org/10.1080/13506129.2025.2527830","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive disorder caused by TTR gene variants, leading to amyloid fibril deposition and clinical manifestations like cardiomyopathy and polyneuropathy. National data for Spain are scarce, despite known high-prevalence areas such as Majorca.Methods: This multicentric, retrospective study analysed 4,526 individuals from 48/52 Spanish regions between 2015 and 2024, including 3,960 index cases and 566 at-risk relatives. Genetic testing was performed to identify pathogenic TTR variants.Results: Among 393 carriers of pathogenic variants, the most prevalent were p.Val50Met (64.1%) and p.Val142Ile (29.5%). Regional prevalence varied, with new high-prevalence areas identified, including Cádiz, Castellón, Ciudad Real, Huelva, Valencia and Zamora. A novel variant of unknown clinical significance, p.Ser137Thr, was found in two unrelated cases. Genotype-phenotype correlations showed p.Val50Met is linked to neurological phenotypes, while p.Val142Ile is associated with cardiac manifestations. A male predominance was observed in index cases, while the sex ratio in carrier relatives was similar to the general population.Conclusions: This is the largest nationwide study of ATTRv in Spain, providing key insights into its genetic landscape. The findings suggest migratory factors may influence variant distribution, emphasising the importance of genetic screening for early diagnosis and management.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-11"},"PeriodicalIF":5.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576884","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

Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31. 自主神经功能障碍对ATTR心肌病患者心血管预后的影响：来自COMPASS-31的见解

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-28 DOI: 10.1080/13506129.2025.2524619

Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer

{"title":"Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31.","authors":"Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer","doi":"10.1080/13506129.2025.2524619","DOIUrl":"10.1080/13506129.2025.2524619","url":null,"abstract":"Background: ATTR is a systemic disease, causing significant morbidity and mortality, manifesting with symptoms affecting both the heart and nervous system. This study employed the Composite Autonomic Symptom Scale 31 (COMPASS-31) to assess autonomic symptoms in relation to ATTR-CM subtypes and the impact of dysfunction on prognosis.Methods: This study included contemporary ATTR-CM patients enrolled in an institutional registry from 7/21-6/24. Demographic information, patient-reported outcomes (COMPASS-31 and Kansas City Cardiomyopathy Questionnaire (KCCQ)), 6-min walk test, and clinical data (hospitalisations, mortality) were collected and compared between ATTR-CM sub-types (ATTRwt, ATTRv-Val122Ile, ATTRv-non Val122Ile).Results: 240 ATTR-CM patients (81% ATTRwt, 11% Val-122Ile, 8% non-Val122Ile) were studied. Following adjustment for age, significant COMPASS-31 score differences were observed between ATTRwt and ATTRv-nonV122I variant patients. \"High\" COMPASS-31 scores (≥35.42) were associated with later Columbia stage, lower exercise tolerance, and poorer quality of life (QOL) (all p < 0.05). Time-to-event analysis demonstrated higher probability of cardiovascular hospitalisations (CVH) for patients with \"High\" COMPASS-31 scores (p < 0.01). These patients also had increased CVH risk (HR = 4.26 [95% CI: 1.85-9.83], p = 0.001) independent of age, sex, ATTR type, Columbia Stage and diabetes.Conclusions: Among ATTR-CM patients, autonomic dysfunction assessed via COMPASS-31 questionnaire was associated with more advanced disease stage and QOL impairment, and independently predicted CVH risk.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-10"},"PeriodicalIF":7.4,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530955","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}

引用次数: 0

Enhanced analytic methodology enables postmortem diagnosis of hereditary AApoAI amyloidosis. 改进的分析方法使死后诊断遗传性AApoAI淀粉样变。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-12 DOI: 10.1080/13506129.2025.2515938

Jeanne L Theis, Linda Hasadsri, Surendra Dasari, Jason D Theis, Julie A Vrana, Mckinzie Johnson, Meghan Driscoll, Ellen D McPhail, Karen L Rech

引用次数: 0

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis. 遗传性ATTR淀粉样变中中枢神经系统并发症的发病机制、表现、诊断和治疗。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2024-12-03 DOI: 10.1080/13506129.2024.2435573

Yoshiki Sekijima, Luísa Sousa

{"title":"Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.","authors":"Yoshiki Sekijima, Luísa Sousa","doi":"10.1080/13506129.2024.2435573","DOIUrl":"10.1080/13506129.2024.2435573","url":null,"abstract":"The clinical efficacy of transthyretin (TTR) tetramer stabilisers and TTR gene silencers in addition to liver transplantation has been established for hereditary ATTR (ATTRv) amyloidosis. Accordingly, non-central nervous system (CNS) systemic amyloidosis manifestations, such as peripheral neuropathy and cardiomyopathy, are now being overcome. However, emerging disease-modifying therapeutics have limited effects on CNS amyloidosis since they target the blood-circulating TTR produced in the liver, and not the cerebral spinal fluid (CSF) TTR synthesised in the choroid plexus. CNS involvement is therefore becoming the most common and severe complication in patients with ATTRv amyloidosis, including transient focal neurologic episodes, haemorrhagic and ischaemic stroke, cognitive decline, and cranial nerve dysfunction. Pathologically, extensive amyloid depositions are observable in the leptomeninges and leptomeningeal vessels, which are in direct contact with the CSF. Amyloid positron emission tomography is a useful biomarker for the early detection and treatment evaluation of early-onset ATTRv amyloidosis with the V30M (p.V50M) variant. Treatment-wise, blood-brain barrier-permeable stabilisers, intrathecal injection of silencers, and monoclonal antibodies against misfolded TTR and/or ATTR amyloid may potentially ameliorate CNS ATTR amyloidosis. The development of novel imaging/CSF biomarkers and disease-modifying therapies are the greatest unmet medical need in ATTRv amyloidosis and require further clinical trials.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"117-128"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774611","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

Previous surgery for lumbar spinal stenosis and association with amyloidosis and heart failure - A Danish nationwide study. 既往腰椎管狭窄手术与淀粉样变性和心力衰竭的关系——丹麦一项全国性研究。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-01-30 DOI: 10.1080/13506129.2025.2456802

Navid Noory, Eva Havers-Borgersen, Adelina Yafasova, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl

{"title":"Previous surgery for lumbar spinal stenosis and association with amyloidosis and heart failure - A Danish nationwide study.","authors":"Navid Noory, Eva Havers-Borgersen, Adelina Yafasova, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl","doi":"10.1080/13506129.2025.2456802","DOIUrl":"10.1080/13506129.2025.2456802","url":null,"abstract":"Introduction: Cardiac Amyloidosis (CA) is characterised by amyloid fibril deposits causing heart failure (HF). Lumbar spinal stenosis (LSS) is recognised as a potential red flag for CA, but the association remains underexplored in large-scale studies.Methods: This nationwide registry-based cohort study in Denmark included subjects ≥60 years with a history of LSS surgery. LSS patients were matched 1:1 with controls by age, sex, ischaemic heart disease, chronic obstructive lung disease, chronic kidney disease, diabetes, and atrial fibrillation.Results: A total of 44,548 LSS surgery patients and matched controls were included (median age 71.5 years, 56.2% women). The cumulative incidence of amyloidosis after 10 years was higher in the LSS group (0.16% vs. 0.08%, HR 2.29 [95% CI 1.46-3.60]) after adjustment for malignancy, hypertension, and liver disease. The cumulative incidence of HF after 10 years was 10.1% in LSS patients compared with 7.5% in controls (HR 1.28 [95% CI 1.22-1.35], p < 0.0001).Conclusions: In this nationwide cohort study, LSS surgery was associated with a significantly higher risk of amyloidosis and HF. Prospective studies are warranted to explore the association further.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"154-160"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069345","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 novel approach for evaluating transthyretin kinetic stabilizers using plasma samples. 一种利用血浆样品评价转甲状腺素动力学稳定剂的新方法。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-02-14 DOI: 10.1080/13506129.2025.2464250

Diogo Costa-Rodrigues, Maria João Saraiva, Maria Rosário Almeida, Luís Gales

引用次数: 0

Abnormal global longitudinal strain and reduced serum inflammatory markers in cardiac AL amyloidosis patients without significant amyloid fibril deposition. 无明显淀粉样纤维沉积的心脏AL淀粉样变性患者的整体纵向应变异常和血清炎症标志物降低。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI: 10.1080/13506129.2025.2478397

Camille V Edwards, Grace M Ferri, Josue Villegas-Galaviz, Sabrina Ghosh, Pushpinder Singh Bawa, Feiya Wang, Elena Klimtchuk, Tinuola B Ajayi, Gareth J Morgan, Tatiana Prokaeva, Andrew Staron, Frederick L Ruberg, Vaishali Sanchorawala, Richard M Giadone, George J Murphy

{"title":"Abnormal global longitudinal strain and reduced serum inflammatory markers in cardiac AL amyloidosis patients without significant amyloid fibril deposition.","authors":"Camille V Edwards, Grace M Ferri, Josue Villegas-Galaviz, Sabrina Ghosh, Pushpinder Singh Bawa, Feiya Wang, Elena Klimtchuk, Tinuola B Ajayi, Gareth J Morgan, Tatiana Prokaeva, Andrew Staron, Frederick L Ruberg, Vaishali Sanchorawala, Richard M Giadone, George J Murphy","doi":"10.1080/13506129.2025.2478397","DOIUrl":"10.1080/13506129.2025.2478397","url":null,"abstract":"Background: Cardiac dysfunction in AL amyloidosis is thought to be partly related to the direct impact of AL LCs on cardiomyocyte function, with the degree of dysfunction at diagnosis as a major determinant of clinical outcomes. Nonetheless, mechanisms underlying LC-induced myocardial toxicity remain unclear.Methods: We identified gene expression changes correlating with human cardiac cell exposure to cardiomyopathy-associated AL LCs. We then confirmed these findings in a clinical dataset focusing on clinical parameters associated with pathways dysregulated at the gene expression level.Results: Upon exposure to cardiomyopathy-associated AL LCs, cardiac cells exhibited gene expression changes related to myocardial contractile function and inflammation, leading us to hypothesise that there could be clinically detectable changes in global longitudinal strain (GLS) on echocardiogram and serum inflammatory markers in patients. Thus, we identified 29 patients with normal interventricular septum diameter (IVSd) but abnormal cardiac biomarkers, suggestive of LC-induced cardiac dysfunction. These patients display early cardiac biomarker staging, abnormal GLS, and significantly reduced serum inflammatory markers compared to patients with clinically evident amyloid fibril deposition.Conclusion: Collectively, our findings highlight early molecular and functional signatures of cardiac AL amyloidosis, with potential impact for developing improved patient biomarkers and novel therapeutics.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"179-192"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711935","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