Review
Cardiac & Cardiovascular Systems
Aldostefano Porcari, Marianna Fontana, Julian D. Gillmore
Summary: Transthyretin cardiac amyloidosis (ATTR-CA) is a common cause of heart failure and mortality, with advances in diagnosis and treatment making it a condition that clinicians should consider daily. Amyloid fibril formation is caused by age-related failure of homoeostatic mechanisms or mutations. Large-scale studies show an increasing incidence of cardiac amyloidosis, with cardiac involvement being the leading cause of mortality. Early recognition is important for optimal treatment.
CARDIOVASCULAR RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Yukihiro Saito, Kazufumi Nakamura, Hiroshi Ito
Summary: Cardiac involvement significantly affects the prognosis of patients with systemic amyloidosis. Therapeutic methods have been developed for ATTR amyloidosis and AL amyloidosis, which show cardiac involvement, leading to improved prognosis. However, there is currently no established method for removing deposited amyloid, and further research is needed for protecting cardiovascular cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Dario Genovesi, Giuseppe Vergaro, Assuero Giorgetti, Paolo Marzullo, Michele Scipioni, Maria Filomena Santarelli, Angela Pucci, Gabriele Buda, Elisabetta Volpi, Michele Emdin
Summary: This study demonstrated the diagnostic value of [18F]-florbetaben PET in patients with suspicion of cardiac amyloidosis, showing its ability to differentiate AL from ATTR or other mimicking conditions. This noninvasive tool may represent a promising method for the diagnosis of AL amyloidosis, which is often challenging and delayed.
JACC-CARDIOVASCULAR IMAGING
(2021)
Review
Biochemistry & Molecular Biology
Nabil Belfeki, Nouha Ghriss, Mehran Monchi, Cyrus Moini
Summary: Cardiac amyloidosis is characterized by the accumulation of misfolded proteins in the heart. Transthyretin and light chain amyloidosis are the most common causes. Recent studies have shown an increasing incidence of this condition due to population aging and advancements in diagnostic tools.
Article
Medicine, General & Internal
Brian B. Agbor-Etang, Henry E. Okafor, Eric H. Farber-Eger, Quinn S. Wells
Summary: Carriers of the TTR V122I variant, especially those over 60 years old, are at a higher risk for developing cardiac amyloidosis, but clinically apparent cardiac amyloidosis in this population is uncommon.
AMERICAN JOURNAL OF MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Maria Papathanasiou, Aiste-Monika Jakstaite, Sara Oubari, Johannes Siebermair, Reza Wakili, Julia Hoffmann, Alexander Carpinteiro, Tim Hagenacker, Andreas Thimm, Christoph Rischpler, Lukas Kessler, Tienush Rassaf, Peter Luedike
Summary: The study investigated the prevalence, characteristics, and predictors of atrial fibrillation in patients with cardiac amyloidosis, finding that patients with AF were older, had more severe symptoms, and ATTR type of amyloidosis was the strongest predictor of AF.
Article
Multidisciplinary Sciences
Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle, Paul Nioi
Summary: Carriers of the V122I mutation exhibit a higher risk of polyneuropathy in the UK Biobank, Penn Medicine Biobank, and Million Veteran Program. This underscores the underdiagnosis of hereditary transthyretin-mediated amyloidosis in V122I carriers and the importance of understanding the manifestations associated with this mutation for earlier diagnosis and treatment.
SCIENTIFIC REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Federico Perfetto, Mattia Zampieri, Giulia Bandini, Roberto Fedi, Roberto Tarquini, Raffaella Santi, Luca Novelli, Marco Allinovi, Alessia Argiro, Francesco Cappelli
Summary: Orthopaedic manifestations of wild-type transthyretin amyloidosis are frequent and characteristic. These manifestations can serve as clues for early diagnosis and are crucial for improving patient outcomes.
Article
Cardiac & Cardiovascular Systems
Thibaud Damy, Arnt Kristen, Ole B. Suhr, Mathew S. Maurer, Violaine Plante-Bordeneuve, Ching-Ray Yu, Moh-Lim Ong, Teresa Coelho, Claudio Rapezzi
Summary: ATTR amyloidosis in continental Western Europe exhibits highly heterogeneous genotypic and phenotypic profiles. Understanding the diversity of the disease across different regions and recognizing the dominant cardiac phenotype resembling hypertrophic cardiomyopathy can improve the clinical recognition of this frequently underdiagnosed condition.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Ulrika Thelander, Gunilla T. Westermark, Gunnar Antoni, Sergio Estrada, Alice Zancanaro, Elisabet Ihse, Per Westermark
Summary: This study found that the binding of skeletal probes to amyloid-containing hearts is due to the presence of tiny calcification clusters, which are not directly associated with amyloid fibrils. Therefore, bone scans can be considered surrogate markers of ATTR amyloid, but caution is needed when estimating amyloid load or disease progression.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Medicine, General & Internal
Mi-Hyang Jung, Suyon Chang, Eun Ji Han, Jong-Chan Youn
Summary: This article summarizes the role of multimodal imaging and biomarkers in the diagnosis, risk stratification, and treatment monitoring of cardiac amyloidosis.
Review
Cardiac & Cardiovascular Systems
Riccardo Scirpa, Edoardo Cittadini, Lorenzo Mazzocchi, Giacomo Tini, Matteo Sclafani, Domitilla Russo, Andrea Imperatrice, Alessandro Tropea, Camillo Autore, Beatrice Musumeci
Summary: Transthyretin related cardiac amyloidosis (TTR-CA) is increasingly recognized due to a non-invasive diagnostic algorithm. The disease has two stages - presymptomatic and symptomatic, with the need to diagnose in the first stage becoming more urgent. Risk stratification is important to identify patients at higher risk of cardiovascular events and death, with proposed prognostic scores based on biomarkers and laboratory findings. A multiparametric approach combining information from various tests may be necessary for comprehensive risk prediction and management.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Mathijs O. Versteylen, Maaike Brons, Arco J. Teske, Marish I. F. J. Oerlemans
Summary: This study explores the left atrial function in patients with immunoglobulin light chain- and transthyretin cardiac amyloidosis. The results show that transthyretin cardiac amyloidosis patients have lower left atrial reservoir function compared to immunoglobulin light chain cardiac amyloidosis patients.
Article
Cardiac & Cardiovascular Systems
Steven Law, Melanie Bezard, Aviva Petrie, Liza Chacko, Oliver C. Cohen, Sriram Ravichandran, Olabisi Ogunbiyi, Mounira Kharoubi, Sashiananthan Ganeshananthan, Sharmananthan Ganeshananthan, Janet A. Gilbertson, Dorota Rowczenio, Ashutosh Wechalekar, Ana Martinez-Naharro, Helen J. Lachmann, Carol J. Whelan, David F. Hutt, Philip N. Hawkins, Thibaud Damy, Marianna Fontana, Julian D. Gillmore
Summary: This study observed 879 patients with ATTR-CM and found that patients with NAC ATTR Stage Ia disease had significant cardiovascular morbidity despite good short- and mid-term survival. The concentration of NT-proBNP and diuretic requirement at diagnosis can be used to further stratify patients with NAC ATTR Stage I ATTR-CM.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Brett W. Sperry, Julie A. Khoury, Shahzad Raza, Julie L. Rosenthal
Summary: Amyloidosis is a multisystem disease that requires coordinated care and treatment involving multiple specialists. Establishing comprehensive amyloidosis programs within healthcare institutions can help improve patient care through multidisciplinary collaboration, clear program goals, institutional support, and focus on program growth and development. The creation and growth of such programs have the potential to increase awareness of the disease and benefit both patients and institutions.
HEART FAILURE REVIEWS
(2022)
Letter
Hematology
Yun Zhou, Haiwei Lian, Ning Shen, Sovannarith Korm, Andrew Kwok Ping Lam, Olivia Layton, Leah N. Huiting, Dun Li, Kelly Miao, Aozhuo Zeng, Esther Landesman-Bollag, David C. Seldin, Hui Fu, Li Hong, Hui Feng
Article
Cardiac & Cardiovascular Systems
Maria Valero-Munoz, Richard M. Wilson, Rosa Breton-Romero, Dominique Croteau, David C. Seldin, Flora Sam
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2020)
Article
Chemistry, Analytical
Juan Wei, Yang Tang, Mark E. Ridgeway, Melvin A. Park, Catherine E. Costello, Cheng Lin
ANALYTICAL CHEMISTRY
(2020)
Article
Cell Biology
Paola Sebastiani, Anthony Federico, Melody Morris, Anastasia Gurinovich, Toshiko Tanaka, Kevin B. Chandler, Stacy L. Andersen, Gerald Denis, Katherine Costello, Luigi Ferrucci, Lori Jennings, David J. Glass, Stefano Monti, Thomas T. Perls
Summary: Using samples from the New England Centenarian Study, researchers characterized the serum proteome of centenarians, their offspring, and age-matched controls. They identified protein signatures associated with longer survival in centenarians and younger individuals and found similarities in aging markers between centenarians and short-lived cohorts. The study provides specific circulating biomarkers of healthy aging and longevity, suggesting potential mechanisms to prolong health and support longevity.
Letter
Oncology
Jose Acevedo, Gheorghe Doros, Raphael Szalat, Vaishali Sanchorawala
CLINICAL LYMPHOMA MYELOMA & LEUKEMIA
(2021)
Article
Oncology
Andrew Staron, Luke Zheng, Gheorghe Doros, Lawreen H. Connors, Lisa M. Mendelson, Tracy Joshi, Vaishali Sanchorawala
Summary: In recent decades, there have been significant advancements in the diagnosis and treatment of systemic light chain (AL) amyloidosis, leading to improved outcomes and decreased early mortality. However, wide survival gaps still exist among different patient subgroups, with most deaths attributed to disease-related factors such as cardiac failure and sudden unexpected death. AL amyloidosis-unrelated mortality has increased over time and with longer-term survival, highlighting the changing landscape of care standards and the overall optimistic outlook for patients with AL amyloidosis.
BLOOD CANCER JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Omar K. Siddiqi, Yuliya Y. Mints, John L. Berk, Lawreen Connors, Gheorghe Doros, Deepa M. Gopal, Shivangi Kataria, Graham Lohrmann, Alexandra R. Pipilas, Frederick L. Ruberg
Summary: The use of Diflunisal in treating wild-type transthyretin cardiac amyloidosis was associated with improved survival and stability in disease markers.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2022)
Article
Biochemical Research Methods
Zizhang Chen, Juan Wei, Yang Tang, Cheng Lin, Catherine E. Costello, Pengyu Hong
Summary: Glycan structure identification is crucial for understanding the role of glycans in biological processes. We developed GlycoDeNovo2, an algorithm that uses precursor mass measurement and p-value calculation to improve the speed and effectiveness of topology reconstruction.
JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY
(2022)
Article
Biochemical Research Methods
Maissa M. M. Gaye, Christina M. M. Ward, Andrew J. J. Piasecki, Vanessa L. L. Stahl, Aikaterini Karagianni, Catherine E. E. Costello, Katya Ravid
Summary: This study found that the JAK2V617F mutation leads to changes in glycosylation, particularly in the beta 1 integrin, in patients with primary myelofibrosis. The glycosylation changes in alpha 2 integrin were more substantial and may also affect activation. The methodology employed in this study has the potential to provide insights into the consequences of integrin activation in MKs at the peptide level.
MOLECULAR & CELLULAR PROTEOMICS
(2022)
Article
Microbiology
Li Liu, Jiri Veis, Wolfgang Reiter, Edwin Motari, Catherine E. Costello, John C. Samuelson, Gustav Ammerer, David E. Levin
Summary: The cell wall integrity (CWI) signaling pathway plays a role in both cell wall biogenesis and the response to genotoxic stress. When activated by DNA damaging agents, the protein kinase Mpk1 is able to initiate a response through an intracellular mechanism that does not involve the CWI pathway. Additionally, the protein kinase C (Pkc1), a key kinase in the CWI signaling cascade, is also involved in the response to genotoxic stress independently of its role in activating Mpk1.
Article
Biochemistry & Molecular Biology
Michelle C. Kaku, Shivkumar Bhadola, John L. Berk, Vaishali Sanchorawala, Lawreen H. Connors, K. H. Vincent Lau
Summary: This study found that the rate of polyneuropathy detected through neurological examination was higher than the symptoms reported by patients, especially among those with V122I TTR amyloidosis, indicating the presence of asymptomatic polyneuropathy. Therefore, routine neurological examinations and other testing should be conducted to achieve earlier identification of active disease state in genetic carriers.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2022)
Article
Chemistry, Analytical
O. Tara Liyanage, Chaoshuang Xia, Silvia Ringler, Bernd Stahl, Catherine E. Costello
Summary: Gangliosides are a type of glycosphingolipids that play various roles in cell activities. The glycan and ceramide components of gangliosides affect their activity, and characterizing the intact molecular forms is important in understanding their function. A mass spectrometry-based method has been developed to determine the glycan and characterize the lipid components of gangliosides, allowing for the differential detection of isomeric ceramide structures.
ANALYTICAL CHEMISTRY
(2023)
Letter
Chemistry, Multidisciplinary
Lixin Zhang, Xueting Liu, Xinye Wang, Guoliang Zhu, Heng Song, Ronghai Cheng, Nathchar Naowarojna, Catherine E. E. Costello, Pinghua Liu
Summary: In their recent publication, Cen, Wang, Zhou et al. reported the crystal structure of a ternary complex of the non-heme iron endoperoxidase FtmOx1 and concluded that it supports the CarC-like mechanistic model for catalysis. However, they failed to accurately describe the CarC-like and COX-like models and address their differences, and their data is consistent with the COX-like model after careful analysis.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2023)
Article
Oncology
Andrew Staron, Lawreen H. Connors, Luke Zheng, Gheorghe Doros, Vaishali Sanchorawala
BLOOD CANCER JOURNAL
(2020)
Article
Cardiac & Cardiovascular Systems
Xiaoxi Yao, Zachi I. Attia, Emma M. Behnken, Melissa S. Hart, Shealeigh A. Inselman, Kayla C. Weber, Fan Li, Nikki H. Stricker, John L. Stricker, Paul A. Friedman, Peter A. Noseworthy
Summary: This study aims to explore whether Apple Watch, used as a long-term monitoring device, is effective in the early diagnosis of atrial fibrillation (AF) and the prevention of cognitive function decline in older adults. By using AI-ECG to screen high-risk patients and record electrocardiograms, the effectiveness of Apple Watch will be evaluated. If successful, this approach could have significant implications on how future clinical practice leverages consumer devices for early diagnosis and disease prevention.
AMERICAN HEART JOURNAL
(2024)