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
Immunology
Jipeng Yan, Jin Zhao, Xiaoxuan Ning, Yunlong Qin, Yan Xing, Yuwei Wang, Qing Jia, Boyong Huang, Rui Ma, Changhui Lei, Meilan Zhou, Zixian Yu, Yumeng Zhang, Wei-Feng Guo, Shiren Sun
Summary: This study demonstrates for the first time the alterations of gut microbiota in patients with AL amyloidosis and successfully establishes and validates a microbial-based diagnostic model. This provides a foundation for future research on microbe-based strategies for diagnosis and treatment in patients with AL amyloidosis.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Oncology
Jose C. Martinez, Eben Lichtman
Summary: Immunoglobulin light chain amyloidosis can manifest as either systemic or localized forms. Localized amyloidosis, despite its lower incidence and heterogeneous clinical presentation, is associated with a good prognosis and a low risk of progressing to systemic disease. More sensitive techniques are needed at diagnosis to rule out systemic disease, and further research is needed to understand the cellular clonal evolution and molecular processes underlying localized amyloid formation.
FRONTIERS IN ONCOLOGY
(2022)
Article
Clinical Neurology
Diana Maria Chitimus, Edouard Berling, Laurent Garderet, Nadia Venturelli, Edoardo Malfatti, Francois Jerome Authier, Guillaume Nicolas, Pascal Laforet, Claire Lefeuvre
Summary: This case report presents a patient with systemic AL amyloidosis myopathy who showed significant clinical improvement after treatment with daratumumab. The previous treatment with bortezomib-based regimen was ineffective. This highlights the potential of daratumumab as a monotherapeutic approach to the treatment of amyloid myopathy complicating AL amyloidosis.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Oncology
Linchun Xu, Yongzhong Su
Summary: Immunoglobulin light chain amyloidosis (AL) is a chronic plasma cell disorder characterized by FLC misfolding and amyloid deposition, classified into non-hyperdiploidy and hyperdiploidy subtypes with distinct treatment responses and prognostic outcomes based on cytogenetic patterns. Other genetic factors, such as specific immunoglobulin light chain germline genes and somatic mutations, also contribute to amyloid formation in AL.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2021)
Article
Oncology
Shawna A. Cooper, Christopher J. Dick, Pinaki Misra, Nelson Leung, Carrie A. Schinstock, Marina Ramirez-Alvarado
Summary: This study evaluates the use of urinary extracellular vesicles (uEVs) as analytical diagnostic tools for AL amyloidosis. The findings suggest that uEVs can provide important tools for patient management, and the detection of LC oligomers from non-invasive urine samples can reduce patient burden and healthcare costs.
FRONTIERS IN ONCOLOGY
(2022)
Article
Hematology
Jiao Chen, Haifei Chen, Lingyun Zhou, Danbo Liu, Fang Du, Hongxian Xiang
Summary: The two most common types of systemic amyloidosis are immunoglobulin light chain (AL) and amyloid transthyretin (ATTR) amyloidosis, with light chain and transthyretin as the respective precursor proteins responsible for amyloidosis. Identifying the precursor proteins is crucial for determining the type of amyloidosis, as both types lack specificity in clinical presentation. Diagnosis of amyloidosis relies on Congo red staining followed by immunohistochemistry or immunofluorescence using fibril protein-specific antibodies. This case study highlights the importance of mass spectrometry in identifying the amyloid precursor protein and ruling out false-positive results from immunohistochemistry.
Article
Genetics & Heredity
Nishant Kumar, Nicole J. Zhang, Dasha Cherepanov, Dorothy Romanus, Michael Hughes, Douglas Faller
Summary: This study estimated the global epidemiology of AL amyloidosis, with approximately 74,000 diagnosed cases worldwide. The estimated incidence and prevalence rates were 10 and 51 cases per million population, respectively.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Medicine, General & Internal
Mark S. Taylor, Hasib Sidiqi, James Hare, Fiona Kwok, Bo Choi, Darren Lee, Jay Baumwol, Antonia S. Carroll, Steve Vucic, Pat Neely, Dariusz Korczyk, Liza Thomas, Peter Mollee, Graeme J. Stewart, Simon D. J. Gibbs
Summary: Amyloidosis is a collection of diseases caused by misfolded proteins forming insoluble amyloid fibrils and depositing in tissues. Recent advances in diagnostic techniques and therapies have improved patient prognosis, but delays in diagnosis and treatment remain a challenge. The most common types are ATTR and AL amyloidosis.
INTERNAL MEDICINE JOURNAL
(2022)
Article
Biology
Rebecca Sternke-Hoffmann, Thomas Pauly, Rasmus K. Norrild, Jan Hansen, Florian Tucholski, Magnus Haraldson Hoie, Paolo Marcatili, Mathieu Dupre, Magalie Duchateau, Martial Rey, Christian Malosse, Sabine Metzger, Amelie Boquoi, Florian Platten, Stefan U. Egelhaaf, Julia Chamot-Rooke, Roland Fenk, Luitgard Nagel-Steger, Rainer Haas, Alexander K. Buell
Summary: Researchers introduce a new systematic workflow for the biophysical characterization of multiple myeloma patient-derived immunoglobulin light chains (IgLCs) and find that in vivo aggregation behavior is unlikely to be linked to any single biophysical or biochemical parameter. They also discover that the potential to form amyloid fibrils is widespread in IgLC sequences and not limited to those sequences that form fibrils in patients.
Article
Cardiac & Cardiovascular Systems
Hani Sabbour, Khwaja Yousuf Hasan, Firas Al Badarin, Haluk Alibazoglu, Andrew L. Rivard, Ingy Romany, Stefano Perlini
Summary: Cardiac amyloidosis is often misdiagnosed, highlighting the importance of raising awareness for accurate diagnosis. Non-invasive imaging techniques and diagnostic tools have improved the diagnosis of this condition. Timely diagnosis is crucial for optimal management, and clinicians should maintain a high index of suspicion for patients presenting with red flag symptoms.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jianyao Lu, Zhaoxia Yang, Dazong Tang, Yi Luo, Chunlin Xiang, Xiaoyue Zhou, Lu Huang, Liming Xia
Summary: This study investigated the left atrial (LA) changes in immunoglobulin light-chain cardiac amyloidosis (AL-CA) patients with different risk stratifications, and explored the correlation between LA function and the degree of amyloid load using cardiac magnetic resonance (CMR) imaging. The results showed that high-risk AL-CA patients exhibited more severe LA function impairment than low-to-moderate-risk AL-CA patients. LAS and LAEF had good capability to differentiate AL-CA patients of different risk stratifications.
BRITISH JOURNAL OF RADIOLOGY
(2023)
Article
Medicine, General & Internal
Emilia Czyzewska, Agnieszka Wisniewska, Anna Waszczuk-Gajda, Olga Ciepiela
Summary: The study indicates that the presence of monoclonal lambda chains in patients with AL amyloidosis may be associated with more severe damage to cardiomyocytes and dysfunction of the myocardium.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Hidenori Moriyama, Hiroki Kitakata, Jin Endo, Hidehiko Ikura, Motoaki Sano, Masayoshi Tasaki, Shunta Sakai, Mitsuharu Ueda, Keiichi Fukuda
Summary: This case highlights the importance of combining examinations and accurately interpreting the results for an accurate diagnosis of cardiac amyloidosis.
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
Urology & Nephrology
Sara J. Holditch, Claire A. Schreiber, Peter C. Harris, Nicholas F. LaRusso, Marina Ramirez-Alvarado, Alessandro Cataliotti, Vicente E. Torres, Yasuhiro Ikeda
KIDNEY INTERNATIONAL
(2017)
Article
Oncology
Sanjay Kumar, David Murray, Surendra Dasari, Paolo Milani, David Barnidge, Benjamin Madden, Taxiarchis Kourelis, Bonnie Arendt, Giampaolo Merlini, Marina Ramirez-Alvarado, Angela Dispenzieri
Letter
Hematology
Taxiarchis Kourelis, David L. Murray, Surendra Dasari, Sanjay Kumar, David Barnidge, Benjamin Madden, Bonnie Arendt, Paolo Milani, Giampaolo Merlini, Marina Ramirez-Alvarado, Robert A. Kyle, Angela Dispenzieri
AMERICAN JOURNAL OF HEMATOLOGY
(2018)
Review
Chemistry, Multidisciplinary
Luis M. Blancas-Mejia, Pinaki Misra, Christopher J. Dick, Shawna A. Cooper, Keely R. Redhage, Michael R. Bergman, Torri L. Jordan, Khansaa Maar, Marina Ramirez-Alvarado
CHEMICAL COMMUNICATIONS
(2018)
Article
Multidisciplinary Sciences
Emily B. Martin, Angela Williams, Craig Wooliver, R. Eric Heidel, Sarah Adams, John Dunlap, Marina Ramirez-Alvarado, Luis M. Blancas-Mejia, Ronald H. Lands, Stephen J. Kennel, Jonathan S. Wall
Article
Hematology
Surbhi Sidana, Nidhi Tandon, Morie A. Gertz, Angela Dispenzieri, Marina Ramirez-Alvarado, David L. Murray, Taxiarchis V. Kourelis, Francis K. Buadi, Prashant Kapoor, Wilson Gonsalves, Rahma Warsame, Martha Q. Lacy, Robert A. Kyle, S. Vincent Rajkumar, Shaji K. Kumar, Nelson Leung
BRITISH JOURNAL OF HAEMATOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Pinaki Misra, Luis M. Blancas-Mejia, Marina Ramirez-Alvarado
Article
Oncology
Surbhi Sidana, Daniel P. Larson, Patricia T. Greipp, Rong He, Ellen D. McPhail, Angela Dispenzieri, David L. Murray, Surendra Dasari, Stephen M. Ansell, Eli Muchtar, Wilson I. Gonsalves, Taxiarchis V. Kourelis, Marina Ramirez-Alvarado, Prashant Kapoor, S. Vincent Rajkumar, Martha Q. Lacy, Francis K. Buadi, Nelson Leung, Robert A. Kyle, Shaji K. Kumar, Rebecca L. King, Morie A. Gertz
Article
Oncology
Torri L. Jordan, Khansaa Maar, Keely R. Redhage, Pinaki Misra, Luis M. Blancas-Mejia, Christopher J. Dick, Jonathan S. Wall, Angela Williams, Allan B. Dietz, Andre J. van Wijnen, Yi Lin, Marina Ramirez-Alvarado
Article
Biochemistry & Molecular Biology
Luis M. Blancas-Mejia, Emily B. Martin, Angela Williams, Jonathan S. Wall, Marina Ramirez-Alvarado
BIOPHYSICAL CHEMISTRY
(2017)
Article
Hematology
Marina Ramirez-Alvarado, David R. Barnidge, David L. Murray, Angela Dispenzieri, Marta Marin-Argany, Christopher J. Dick, Shawna A. Cooper, Samih H. Nasr, Christopher J. Ward, Surendra Dasari, Victor H. Jimenez-Zepeda, Nelson Leung
AMERICAN JOURNAL OF HEMATOLOGY
(2017)
Meeting Abstract
Biochemistry & Molecular Biology
Emily B. Martin, Angela Williams, Craig Wooliver, R. Eric Heidel, Sarah Adams, John Dunlap, Marina Ramirez-Alvarado, Luis Blancas-Mejia, Stephen J. Kennel, Jonathan S. Wall
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2017)
Article
Chemistry, Multidisciplinary
Dennis W. Piehl, Luis M. Blancas-Mejia, Jonathan S. Wall, Stephen J. Kennel, Marina Ramirez-Alvarado, Chad M. Rienstra
Article
Biochemistry & Molecular Biology
Luis M. Blancas-Mejia, Pinaki Misra, Marina Ramirez-Alvarado
Review
Biochemistry & Molecular Biology
Kirsten Gade Malmos, Luis M. Blancas-Mejia, Benedikt Weber, Johannes Buchner, Marina Ramirez-Alvarado, Hironobu Naiki, Daniel Otzen
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2017)