Article
Biochemistry & Molecular Biology
Christine Fischer, Chiara Volani, Timea Komlodi, Markus Seifert, Egon Demetz, Lara Valente de Souza, Kristina Auer, Verena Petzer, Laura von Raffay, Patrizia Moser, Erich Gnaiger, Guenter Weiss
Summary: This study investigates the effects of dietary and genetic iron overload on mitochondrial function, revealing that iron accumulation promotes ROS production and impairs mitochondrial respiratory capacity. Differences in response to iron overload were observed in wildtype and genetic hemochromatosis model mice, suggesting the potential for iron reduction therapy to improve mitochondrial function.
Article
Genetics & Heredity
Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
Summary: This study identified a series of novel candidate non-HFE mutations in Chinese patients with hereditary hemochromatosis, providing insights into the genetic basis of unexplained primary iron overload.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Editorial Material
Hematology
Nermi L. Parrow, Robert E. Fleming
Summary: In this study, the researchers found that the hemochromatosis protein HFE is necessary for the involvement of hepatocellular transferrin receptor 1 (TFR1) in the regulation of iron metabolism and erythropoiesis. This regulation is crucial for maintaining iron balance and normal red blood cell production. The disruption of this regulation contributes to iron-loading anemias and erythropoietin resistance. The identification of the sensors responsible for these processes provides potential targets for therapeutic interventions.
Article
Biochemistry & Molecular Biology
Francesca M. Alves, Marissa K. Caldow, Sheridan L. Helman, Scott Ayton, Ashley Bush, Gordon S. Lynch, David M. Frazer, Rene Koopman
Summary: By studying the skeletal muscles of aged mice, we found that hereditary hemochromatosis is associated with increased iron content and decreased proteins related to oxidative metabolism, providing insights into the biochemical pathology underlying the common symptoms of fatigue and reduced exercise tolerance.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
(2022)
Article
Biochemistry & Molecular Biology
Darrell H. G. Crawford, Diana G. F. Ross, Lesley-Anne Jaskowski, Leslie J. Burke, Laurence J. Britton, Nick Musgrave, David Briskey, Gautam Rishi, Kim R. Bridle, Nathan Subramaniam
Summary: Results from experiments on Hfe(-/-) mice indicate that reducing iron intake can alleviate the development of steatosis caused by a high-calorie diet, suggesting that modulation of iron balance could be a potential approach for treating NAFLD.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2021)
Article
Genetics & Heredity
Gonzalo Hernandez, Xenia Ferrer-Cortes, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Munoz Torres, Ines Hernandez Rodriguez, Maria Angels Ruiz Minguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricos, Eloi Canamero Giro, Santiago Perez-Montero, Cristian Tornador, Jordi Villa-Freixa, Mayka Sanchez
Summary: This article describes six new patients of non-HFE related hereditary hemochromatosis, with two families having novel nonsense mutations in the HFE2 gene and three families having mutations in the TFR2 gene. These rare cases highlight the importance of early molecular diagnosis in a specialized center to prevent serious clinical complications.
Article
Biology
Abdolamir Allameh, Nico Huettmann, Edouard Charlebois, Angeliki Katsarou, Wen Gu, Konstantinos Gkouvatsos, Elisa Pasini, Mamatha Bhat, Zoran Minic, Maxim Berezovski, Maria Guido, Carine Fillebeen, Kostas Pantopoulos
Summary: HJV has a hepatoprotective function and its deficiency in mice leads to mitochondrial dysfunction and hepatocarcinogenesis.
COMMUNICATIONS BIOLOGY
(2022)
Review
Gastroenterology & Hepatology
Alla Turshudzhyan, David C. Wu, George Y. Wu
Summary: Iron homeostasis is a complex process involving tightly balanced iron uptake and use. HFE gene mutations are the major cause of primary Type 1 hemochromatosis, while non-HFE hemochromatosis involves other genes such as HJV, HAMP, TFR2, and SLC40A1. Non-HFE hemochromatosis is rare but can cause severe iron overload. Diagnosis is made by ruling out HFE mutations and assessing history, physical examination, laboratory values, imaging, and liver biopsy if necessary. Early treatment with phlebotomy is important to prevent irreversible damage and chronic liver disease.
JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY
(2023)
Review
Gastroenterology & Hepatology
Kanokwan Pinyopornpanish, Adisak Tantiworawit, Apinya Leerapun, Atiwat Soontornpun, Satawat Thongsawat
Summary: Iron overload is a condition characterized by excessive iron deposit in organs, primarily the liver, leading to liver morbidity and mortality. It can be divided into primary and secondary causes, with secondary iron overload being more prevalent and associated with diverse causes across different geographic regions. The main causes of secondary iron overload are iron-loading anemias and chronic liver disease. This review provides an overview of the causes, pathophysiology, liver-related outcomes, disease outcomes, and treatments of secondary iron overload.
JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY
(2023)
Article
Multidisciplinary Sciences
Klaus Rieneck, Karen Koefoed Rasmussen, Erwin M. Schoof, Frederik Banch Clausen, Henrietta Holze, Thomas Bergholt, Marianne Horby Jorgensen, Vibeke Brix Christensen, Runar Almaas, Peter Luttge Jordal, Marie Locard-Paulet, Kasper Runager, Leif Kofoed Nielsen, Balthasar Clemens Schlotmann, Joachim Lutken Weischenfeldt, Lars Juhl Jensen, Morten Hanefeld Dziegiel
Summary: The prevailing concept suggests that gestational alloimmune liver disease (GALD) is caused by maternal antibodies targeting an unknown antigen on the fetal liver. This study used three different experimental approaches to identify the liver target antigen of maternal antibodies from women with GALD-diagnosed babies, but did not find the GALD target antigen. The results also did not support the hypothesis that the GALD antigen is an alloantigen.
Article
Pharmacology & Pharmacy
Archita Venugopal Menon, Jonghan Kim
Summary: This study investigates the impact of iron on doxorubicin-induced cardiotoxicity and finds that ABCB8 mediates the efflux of doxorubicin. High iron increases the retention and toxicity of doxorubicin, while iron deficiency improves this effect. The results are further validated in a mouse model of hereditary hemochromatosis.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Michaela Plaikner, Christian Kremser, Heinz Zoller, Stephan Kannengiesser, Benjamin Henninger
Summary: The study compared liver stiffness (LS) between gradient-recalled echo magnetic resonance elastography (GRE-MRE) and different spin-echo echo-planar imaging (SE-EPI-MRE) sequences, finding good agreement between GRE-MRE and SE-EPI-MRE LS values. However, GRE-MRE had a significantly lower number of successful exams, mainly due to high iron content.
EUROPEAN JOURNAL OF RADIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Elizabeta Nemeth, Tomas Ganz
Summary: Iron regulation in organisms is primarily controlled by the interaction of the iron-regulatory peptide hormone hepcidin and its receptor ferroportin, which plays a crucial role in maintaining iron homeostasis. Dysregulation of hepcidin can lead to iron overload disorders or iron deficiency, affecting iron delivery and compensatory erythropoiesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Hematology
Domenico Girelli, Fabiana Busti, Pierre Brissot, Ioav Cabantchik, Martina U. Muckenthaler, Graca Porto
Summary: Hemochromatosis is a genetically heterogenous disorder characterized by uncontrolled intestinal iron absorption leading to iron overload and potentially life-threatening complications. Recent research has identified mutations in at least 5 genes as the main cause of the disease, affecting hepcidin production or action.
Review
Neurosciences
Ali Shahandeh, Bang V. Bui, David I. Finkelstein, Christine T. O. Nguyen
Summary: Iron plays a crucial role in neuronal health, but excessive levels can be toxic and lead to cell death. Hemochromatosis is a genetic disorder that causes iron overload and injury in multiple organs. Recent findings have shown that genes associated with hemochromatosis can disrupt retinal iron metabolism. Therefore, studying the effects of iron overload on the retina is important for understanding its implications in various retinal disorders.
FRONTIERS IN NEUROSCIENCE
(2022)
Letter
Gastroenterology & Hepatology
Shmuel Golfeyz
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Meeting Abstract
Gastroenterology & Hepatology
Anup Shah, Isabel Guerrido Martinez, Nelson Valentin, Melissa Hershman, Kelsey Collins, Shmuel Golfeyz, Ilan Weisberg
JOURNAL OF HEPATOLOGY
(2019)
Meeting Abstract
Gastroenterology & Hepatology
Anup Shah, Isabel Guerrido Martinez, Nelson Valentin, Melissa Hershman, Kelsey Collins, Shmuel Golfeyz, Ilan Weisberg
GASTROINTESTINAL ENDOSCOPY
(2019)
Editorial Material
Medicine, General & Internal
Shmuel Golfeyz, Adam Haviland, Alfred Burger
Summary: The TWDFNR series reviews common practices in hospital care, aiming to spark research and active discussion rather than provide clear-cut conclusions or clinical practice standards.
JOURNAL OF HOSPITAL MEDICINE
(2021)
Meeting Abstract
Gastroenterology & Hepatology
Anup Shah, Isabel C. Guerrido Martinez, Nelson Valentin, Shmuel Golfeyz, Kelsey E. Collins, Melissa Hershman, Ilan Weisberg
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Meeting Abstract
Gastroenterology & Hepatology
Michael Ma, Shmuel Golfeyz, Seth Cohen
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Meeting Abstract
Gastroenterology & Hepatology
Michael Ma, Shmuel Golfeyz, Christine Chen, Jahnavi Naik
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Meeting Abstract
Gastroenterology & Hepatology
Shmuel Golfeyz, Michael Ma, Craig R. Gluckman, Franklin E. Kasmin
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Meeting Abstract
Gastroenterology & Hepatology
David Schwarzbaum, Shmuel Golfeyz, Craig Gluckman, Dustin Cotliar, Ilan Weisberg
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2017)
Meeting Abstract
Gastroenterology & Hepatology
Shmuel Golfeyz, Praneet Korrapati, Lionel S. D'Souza, Franklin E. Kasmin
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2017)
Meeting Abstract
Gastroenterology & Hepatology
Shmuel Golfeyz, Nathaniel Ernstoff, Omar K. Jilani, Ira M. Jacobson
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2017)
Meeting Abstract
Gastroenterology & Hepatology
Shmuel Golfeyz, Gloria Lan, David L. Carr-Locke
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2017)
Meeting Abstract
Gastroenterology & Hepatology
Shmuel Golfeyz, Sam M. Serouya, William H. Brown, Franklin E. Kasmin
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2017)