Amyloid-Journal of Protein Folding Disorders最新文献_第2页

Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants. 在福尔马林固定的临床淀粉样蛋白样品中，转甲状腺素的氧化转化导致His90Asp和His90Asn变体的形成。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-12-15 DOI: 10.1080/13506129.2024.2436990

Simran Raheja, Guglielmo Verona, Paolo Florent, Nigel B Rendell, Paola Nocerino, Stephan Ellemerich, Raizel Fernandes, Nicola Botcher, Dorota Rowczenio, Janet A Gilbertson, J Paul Simons, Julian D Gillmore, Vittorio Bellotti, Graham W Taylor, Diana Canetti

{"title":"Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants.","authors":"Simran Raheja, Guglielmo Verona, Paolo Florent, Nigel B Rendell, Paola Nocerino, Stephan Ellemerich, Raizel Fernandes, Nicola Botcher, Dorota Rowczenio, Janet A Gilbertson, J Paul Simons, Julian D Gillmore, Vittorio Bellotti, Graham W Taylor, Diana Canetti","doi":"10.1080/13506129.2024.2436990","DOIUrl":"10.1080/13506129.2024.2436990","url":null,"abstract":"Background: Proteomics is routinely used to type clinical amyloid deposits, and offers additional benefit of identifying genetic variants, which can be diagnostically useful. Reviewing the proteomics data for ATTR patients attending our Centre revealed an unusually large number of samples containing a rare pathogenic H90D TTR variant alongside the more common H90N variant.Methods: These findings raised questions to their source. Proteomics was used to monitor the generation of H90D/H90N variants in fresh, frozen, stored samples during extraction and digestion, and also following Cu2+-mediated oxidation.Results: There was no evidence that the variants were present in the circulation, except in one patient with genetically confirmed H90D TTR, in fresh fat aspirates or tissues from an ATTR amyloid mouse model. The variant could be generated in vitro from both wild-type TTR and ex vivo ATTR fibrils by non-enzymic oxidation of histidine at position 90. These data suggest that the H90D variant can be generated artefactually from wild-type 90H TTR through a radical-mediated oxidation of histidine, followed by its conversion to asparagine and aspartic acid. This probably occurs during storage.Conclusions: In the absence of genetic data, the identification of H90D TTR in stored tissue by proteomics should be treated with caution.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"46-53"},"PeriodicalIF":5.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830790","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

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 : 2025-03-01 Epub 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

Clinical impact of beta-blocker withdrawal in transthyretin amyloid cardiomyopathy. 经甲状腺素淀粉样变性心肌病患者停用β-受体阻滞剂的临床影响。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-11-20 DOI: 10.1080/13506129.2024.2431082

Eva Cabrera-Romero, Leidy Alexandra Serrao-Faria, Nerea Mora-Ayestarán, Belén Peiró-Aventín, Ana Espinoza, Daniel de Castro, Marta Cobo-Marcos, Fernando Domínguez, Esther González-López, Pablo Garcia-Pavia

引用次数: 0

Involvement of bile acid in diarrhoea and therapeutic effect of colestimide in hereditary ATTR amyloidosis. 胆汁酸对遗传性 ATTR 淀粉样变性病腹泻的影响及可乐定的治疗效果。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-11-20 DOI: 10.1080/13506129.2024.2430554

Yusuke Mochizuki, Nagaaki Katoh, Akira Matsushima, Masahide Yazaki, Naoko Kuwabara, Saori Nakagawa, Yoshiki Sekijima

{"title":"Involvement of bile acid in diarrhoea and therapeutic effect of colestimide in hereditary ATTR amyloidosis.","authors":"Yusuke Mochizuki, Nagaaki Katoh, Akira Matsushima, Masahide Yazaki, Naoko Kuwabara, Saori Nakagawa, Yoshiki Sekijima","doi":"10.1080/13506129.2024.2430554","DOIUrl":"10.1080/13506129.2024.2430554","url":null,"abstract":"Background: Diarrhoea is one of the most serious complications in hereditary ATTR (ATTRv) amyloidosis. However, its precise pathomechanism remains unknown. The present study investigated the involvement of bile acid in diarrhoea along with the therapeutic effect of colestimide, a bile acid sequestrant, in ATTRv amyloidosis.Methods: We prospectively enrolled 19 ATTRv amyloidosis patients (9 with refractory diarrhoea and 10 without diarrhoea) and 20 healthy individuals for measurements of serum 7a-hydroxy-4-cholesten-3-one (C4) levels. The patients with diarrhoea were then treated with oral colestimide (1.5 g twice daily) for 28 days. The frequency of diarrhoea and C4 level were evaluated before and after colestimide treatment.Results: Mean serum C4 level was significantly higher in ATTRv patients with diarrhoea (62.3 ng/mL) than in ATTRv patients without diarrhoea (24.0 ng/mL, p = 0.03). Colestimide treatment significantly decreased mean diarrhoea frequency (pre-treatment period: 9.1 times/week, colestimide treatment period, 6.6 times/week, p = 0.04) and increased mean C4 level (before treatment: 66.2 ng/mL, after treatment: 187.1 ng/mL, p = 0.02).Conclusions: Bile acid status was significantly associated with diarrhoea in ATTRv amyloidosis. Colestimide and other bile acid sequestrants may reduce diarrhoea frequency in afflicted patients.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"39-45"},"PeriodicalIF":5.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677439","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

Right ventricular coupling predicts cardiopulmonary fitness in cardiac transthyretin amyloidosis. 右心室耦合预测心脏转甲状腺蛋白淀粉样变性患者的心肺健康。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-12-23 DOI: 10.1080/13506129.2024.2442994

Katharina Knoll, Stefan Gross, Patrick Fuchs, Amadea Erben, Julia Hock, Moritz von Scheidt, Thorsten Kessler, Carsten Lennerz, Wibke Reinhard, Heribert Schunkert, Teresa Trenkwalder

{"title":"Right ventricular coupling predicts cardiopulmonary fitness in cardiac transthyretin amyloidosis.","authors":"Katharina Knoll, Stefan Gross, Patrick Fuchs, Amadea Erben, Julia Hock, Moritz von Scheidt, Thorsten Kessler, Carsten Lennerz, Wibke Reinhard, Heribert Schunkert, Teresa Trenkwalder","doi":"10.1080/13506129.2024.2442994","DOIUrl":"10.1080/13506129.2024.2442994","url":null,"abstract":"Background: Wild-type transthyretin cardiac amyloidosis (ATTRwt) is an infiltrative disease leading to restrictive cardiomyopathy. We aimed to characterise exercise capacity in ATTRwt and to identify predictors of cardiopulmonary fitness, focusing on echocardiographic and clinical parameters.Methods: We studied 110 ATTRwt patients from a prospective single-centre registry (2020-2024) by cardiopulmonary exercise testing (CPET). Besides CPET, all patients underwent comprehensive clinical assessment including follow-up for mortality. In 32 patients follow-up CPET after 1 year was available.Results: In ATTRwt, reduced aerobic capacity (pVO2 16 [13-18] ml/kg/min), and ventilatory inefficiency (VE/VCO2 slope 35 [30-43]) were common. In the multivariable regression analysis, we identified TAPSE/sPAP ratio as predictive for pVO2 (p = 0.019) and ventilatory efficiency (p = 0.004), while left ventricular ejection fraction or measures of left ventricular hypertrophy were not predictive. Concordantly, TAPSE/sPAP ratio assessed at baseline predicted pVO2 at 1-year follow-up (p = 0.009). Furthermore, patients with a TAPSE/sPAP ratio below the median of 0.38 mm/mmHg presented a higher risk of all-cause death (p = 0.009).Conclusion: In ATTRwt the TAPSE/sPAP ratio, a marker of right ventricular coupling, was an independent predictor of aerobic capacity assessed by CPET, at baseline and after 1 year, highlighting the importance of right ventricular assessment for risk stratification.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"54-62"},"PeriodicalIF":5.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878536","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

Left atrioventricular coupling index assessed with three-dimensional echocardiography: a prognostic marker of short-term outcomes in light-chain cardiac amyloidosis. 三维超声心动图评估左房室耦合指数：轻链心脏淀粉样变性短期预后的预后指标。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2025-01-15 DOI: 10.1080/13506129.2024.2448435

Fangmin Meng, Jing Li, Rui Zhao, Yuanfeng Wu, Yu Liu, Yiming Yang, Yang Yang, Nianwei Zhou, Lili Dong, Dehong Kong, Haiyan Chen, Xianhong Shu, Peng Liu, Cuizhen Pan

{"title":"Left atrioventricular coupling index assessed with three-dimensional echocardiography: a prognostic marker of short-term outcomes in light-chain cardiac amyloidosis.","authors":"Fangmin Meng, Jing Li, Rui Zhao, Yuanfeng Wu, Yu Liu, Yiming Yang, Yang Yang, Nianwei Zhou, Lili Dong, Dehong Kong, Haiyan Chen, Xianhong Shu, Peng Liu, Cuizhen Pan","doi":"10.1080/13506129.2024.2448435","DOIUrl":"10.1080/13506129.2024.2448435","url":null,"abstract":"Background: Light-chain cardiac amyloidosis (AL-CA) is associated with structural and functional changes in the left atrium and left ventricle. This study aims to assess the value of the left atrioventricular coupling index (LACI) assessed by three-dimensional echocardiography (3DE) for predicting primary outcome in AL-CA.Methods: Participants with biopsy-confirmed AL-CA from April 2022 to February 2024 were prospectively analysed. LACI, the ratio of left atrial volume min to left ventricular end-diastolic volumes, was calculated offline using EchoPAC 204. The primary outcome was defined as all-cause death.Results: Sixty-seven biopsy-proven AL-CA patients were studied (age: 62.98 ± 10.20 years; 67% male). The median follow-up was 121 days (range: 7 ∼ 732 days). All-cause mortality occurred in 26 (39%) patients. Multivariate Cox regression revealed a significant association of LACI after adjusting for NT-pro BNP, troponin T, moderate tricuspid regurgitation, pericardial and pleural effusion (adjusted HR: 10.58, p = 0.008). Kaplan-Meier curves displayed prognostic differences based on median LACI (cut-off : 0.57, p = 0.002). The likelihood ratio χ2 test showed that LACI added predictive value to Mayo 2004, European 2015 modification of Mayo 2004, and Mayo 2012 models (All p < 0.001).Conclusions: 3DE-based LACI is independently associated with all-cause mortality in AL-CA patients and augments prognostic value to traditional staging models.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"63-71"},"PeriodicalIF":5.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015615","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

High frequency of occult transthyretin and apolipoprotein AI-type amyloid in aortic valves removed by valve replacement for aortic stenosis. 在因主动脉瓣狭窄而进行瓣膜置换术切除的主动脉瓣中，隐匿性转甲状腺素和脂蛋白AI型淀粉样蛋白的出现频率很高。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-11-11 DOI: 10.1080/13506129.2024.2426508

Kohei Honda, Masayoshi Tasaki, Tetsuhiro Yamano, Mitsuharu Ueda, Hironobu Naiki, Noriyuki Tanaka, Yukiko Morinaga, Aya Miyagawa-Hayashino

{"title":"High frequency of occult transthyretin and apolipoprotein AI-type amyloid in aortic valves removed by valve replacement for aortic stenosis.","authors":"Kohei Honda, Masayoshi Tasaki, Tetsuhiro Yamano, Mitsuharu Ueda, Hironobu Naiki, Noriyuki Tanaka, Yukiko Morinaga, Aya Miyagawa-Hayashino","doi":"10.1080/13506129.2024.2426508","DOIUrl":"10.1080/13506129.2024.2426508","url":null,"abstract":"Background: A high incidence of valvular involvement of amyloid in the setting of aortic stenosis (AS) has been reported. Amyloid derived from ApoAI (AApoAI) can form local amyloid deposits in the aortic valve. Although a high prevalence of concomitant severe AS and cardiac transthyretin-type amyloidosis (ATTR) has been reported, the prevalence of valvular involvement by ATTR and AApoAI is unclear.Methods: Using immunostaining and mass spectrometry, we analysed amyloid proteins in 97 aortic valves removed for valve replacement due to AS at Kyoto Prefectural University of Medicine between 2014 and 2021. Clinical information was also reviewed.Results: Amyloid deposits were found in 44 cases (45%), of which 30 cases (68%) involved ATTR and 33 cases (75%) AApoAI. Statistical analysis showed significantly lower age and E/e' among amyloid-positive cases compared with amyloid-negative cases and significantly lower brain natriuretic peptide, higher fractional shortening, and higher left ventricular ejection fraction among ATTR-positive cases compared with ATTR-negative cases. Seven recent patients underwent bone scintigraphy and ATTR cardiomyopathy was observed in only one case.Conclusions: AS symptoms can manifest earlier in patients with amyloid or ATTR deposition in the aortic valve than in patients without such deposition, even though left ventricular function is preserved.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"22-28"},"PeriodicalIF":5.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631826","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

In memoriam: Lawreen Connors, Ph.D.

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-03-01 Epub Date: 2024-11-27 DOI: 10.1080/13506129.2024.2432979

Vaishali Sanchorawala, Martha Skinner

引用次数: 0

Therapeutic effect of TTR siRNA on hereditary transthyretin amyloidosis (ATTRv) nephropathy.

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-02-23 DOI: 10.1080/13506129.2025.2470369

Takahiro Ajiki, Tatsuhiko Ozono, Fusako Sera, Hiroaki Yonishi, Jun Matsuda, César Aguirre, Keita Kakuda, Yumiko Yasuhara, Yoshitaka Isaka, Yasushi Sakata, Kensuke Ikenaka, Hideki Mochizuki

{"title":"Therapeutic effect of TTR siRNA on hereditary transthyretin amyloidosis (ATTRv) nephropathy.","authors":"Takahiro Ajiki, Tatsuhiko Ozono, Fusako Sera, Hiroaki Yonishi, Jun Matsuda, César Aguirre, Keita Kakuda, Yumiko Yasuhara, Yoshitaka Isaka, Yasushi Sakata, Kensuke Ikenaka, Hideki Mochizuki","doi":"10.1080/13506129.2025.2470369","DOIUrl":"https://doi.org/10.1080/13506129.2025.2470369","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis (ATTRv) is a fatal disease that affects multiple organs. Up to 30% of patients with ATTRv also experience renal complications, including proteinuria and a decline in eGFR. Recently, new treatments for ATTRv, a tetramer stabiliser and transthyretin small interfering RNA (TTR siRNA) therapeutics, have emerged. However, the effectiveness of these new treatments on renal complications in ATTRv remains unknown.Methods: We retrospectively collected clinical data from ATTRv patients and analysed the relationship between the initial renal complications and age. We also examined whether the new treatments affected the clinical course of renal symptoms, using eGFR changes or longitudinal data on urine protein/albumin creatinine ratio.Results: A total of 16 patients' data were collected. Regarding their initial renal complications, we found that patients with proteinuria had an earlier age at onset than those with a decline in eGFR. Notably, longitudinal data showed that TTR siRNA therapeutics reduced proteinuria and increased serum protein, while none of the new treatments could demonstrate a significant improvement in the slope of eGFR decline.Conclusions: We demonstrated that TTR siRNA therapeutics represent potential candidates for ATTRv nephropathy, despite the fact that their use has been limited to neurological symptoms to date.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-8"},"PeriodicalIF":5.2,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484596","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

Supportive care for systemic amyloidosis: International Society of Amyloidosis (ISA) expert panel guidelines.

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-02-21 DOI: 10.1080/13506129.2025.2463678

Eli Muchtar, Martha Grogan, Fabian Aus dem Siepen, Marcia Waddington-Cruz, Yohei Misumi, Antonia S Carroll, John O Clarke, Vaishali Sanchorawala, Paolo Milani, Riccardo Caccialanza, Valentina Da Prat, Rajiv Pruthi, Luis F Quintana, Frank Bridoux

{"title":"Supportive care for systemic amyloidosis: International Society of Amyloidosis (ISA) expert panel guidelines.","authors":"Eli Muchtar, Martha Grogan, Fabian Aus dem Siepen, Marcia Waddington-Cruz, Yohei Misumi, Antonia S Carroll, John O Clarke, Vaishali Sanchorawala, Paolo Milani, Riccardo Caccialanza, Valentina Da Prat, Rajiv Pruthi, Luis F Quintana, Frank Bridoux","doi":"10.1080/13506129.2025.2463678","DOIUrl":"https://doi.org/10.1080/13506129.2025.2463678","url":null,"abstract":"Systemic amyloidosis refers to a group of protein misfolding disorders resulting in organ deposition with amyloid, leading to organ dysfunction, ultimately resulting in organ failure and death if not successfully treated. Treatment is type-specific and aimed at the underlying source of the misfolded protein. In the past decades, treatments have become increasingly available across the various amyloidosis types with improved response rates and longer survival. Supportive care measures are an integral part of care for patients with systemic amyloidosis to improve symptom burden and quality of life, reduce healthcare costs, and potentially prolong survival while type-directed therapy takes effect. In these guidelines, we provide supportive care recommendations across eight areas of interest in systemic amyloidosis: cardiology, nephrology, peripheral neuropathy, central nervous system involvement, autonomic neuropathy, gastroenterology, coagulopathy and bleeding, nutrition and hematology. These guidelines were developed on behalf of the International Society of Amyloidosis (ISA) by experts in the above fields and provide the best available evidence and expertise for supportive care in these rare disorders.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-24"},"PeriodicalIF":5.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476998","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