Article
Medicine, General & Internal
Emmanuelle Albalat, Thibault Cavey, Patricia Leroyer, Martine Ropert, Vincent Balter, Olivier Loreal
Summary: Hereditary hemochromatosis is a genetic iron overload disease caused by a mutation in the HFE gene. Using Hfe(-/-) mice, this study found that the concentration of iron and stable isotope composition increased in the liver and red blood cells, but not in the spleen. The results suggest that the increase in whole blood isotope composition in hemochromatosis patients is mainly due to the release of heavy isotope-enriched iron from the liver, rather than increased dietary iron absorption.
FRONTIERS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Francois Robin, Daniel Chappard, Patricia Leroyer, Chloe Latour, Guillaume Mabilleau, Valerie Monbet, Thibault Cavey, Mathieu Horeau, Frederic Derbre, Marie-Paule Roth, Martine Ropert, Pascal Guggenbuhl, Olivier Loreal
Summary: This study investigates the respective roles of iron excess and hepcidin in the development of iron-related osteoporosis. The findings suggest that iron overload alone is not sufficient to induce osteoporosis, and low levels of hepcidin also contribute to its development.
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.
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)
Article
Biochemistry & Molecular Biology
Paul Knoop, Dilay Yilmaz, Rossana Paganoni, Peter Steele-Perkins, Andreas Gruber, Banu Akdogan, Hans Zischka, Kerstin Leopold, Maja Vujic Spasic
Summary: Mutations in the HFE/Hfe gene cause Hereditary Hemochromatosis (HH), characterized by iron deposition. HFE acts in hepatocytes and myeloid cells to regulate iron homeostasis. However, HFE actions in liver-resident macrophages seem to be dispensable for cellular, hepatic, and systemic iron regulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Katarzyna Banaszkiewicz, Katarzyna Sikorska, Damian Panas, Krzysztof Sworczak
Summary: Type 1 hereditary hemochromatosis (HH) is a genetic disorder characterized by systemic iron overload due to mutations in the HFE gene. This study analyzed calcium and phosphate metabolism parameters, bone mineral density (BMD) disorders, and bone microarchitecture in HH patients. Lower TBS parameter, serum 25-OH-D3 concentration, higher intact parathormone concentration, and more frequent joint pain were observed in HH patients compared to the control group. Early assessment of bone microarchitecture and fracture risk using DXA with the TBS option can be valuable in HH patients, especially those with liver damage or cirrhosis who may benefit from vitamin D supplementation and monitoring.
Article
Endocrinology & Metabolism
Francesca Vigevano, Giulia Gregori, Georgia Colleluori, Rui Chen, Vimlin Autemrongsawat, Nicola Napoli, Clifford Qualls, Dennis T. Villareal, Reina Armamento-Villareal
Summary: In men, the combination of obesity and T2D is associated with reduced bone turnover and poorer trabecular bone microarchitecture and bone strength compared to those who are obese but without T2D, suggesting worse bone disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Plant Sciences
Reena Rai, Sudhir Kumar, Krishna Bhan Singh, Sonu Khanka, Yatendra Singh, K. R. Arya, Sanjeev Kanojiya, Rakesh Maurya, Divya Singh
Summary: The ethanolic extract and butanolic fraction of Musa paradisiaca flower show potential in preventing bone density loss and promoting bone regeneration, improving bone microarchitecture in postmenopausal conditions. Compounds isolated from the extract exhibit significant osteogenic effects.
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
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
Agriculture, Dairy & Animal Science
Xiaotong Li, Jin Zhang, Xianglin Kong, Talaygul Xerenbek, Torkun Mamet
Summary: This study found that yak milk can improve bone density and microarchitecture in osteoporotic mice by inhibiting bone resorption. It also showed that yak milk significantly reduces bone turnover markers and improves bone volume and biomechanical properties.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Medicine, General & Internal
Yui Ogiso, Tatsunori Hanai, Kayoko Nishimura, Takao Miwa, Toshihide Maeda, Kenji Imai, Atsushi Suetsugu, Koji Takai, Masahito Shimizu
Summary: This cross-sectional study aimed to determine whether TBS can identify patients with liver cirrhosis that are at risk of vertebral fractures. The results showed a significant correlation between TBS and vertebral fractures, indicating that TBS can help identify patients at risk of vertebral fractures in liver cirrhosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Dentistry, Oral Surgery & Medicine
Pingping Han, Tianqing Liu, Cedryck Vaquette, David Frazer, Gregory Anderson, Saso Ivanovski
Summary: The study reveals that Hfe gene mutation leads to excessive iron deposition in periodontal tissues, significant periodontal bone loss, alterations in bone development and turnover, as well as increased levels of pro-inflammatory cytokine interleukin 6 and periodontal bacteria Campylobacter rectus in Hfe(-/-) mice.
JOURNAL OF PERIODONTAL RESEARCH
(2022)
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
Hematology
Xia Xiao, Gillian A. Moschetta, Yang Xu, Allison L. Fisher, Victor M. Alfaro-Magallanes, Som Dev, Chia-Yu Wang, Jodie L. Babitt
Summary: This study investigated the role of transferrin receptor 1 (TfR1) in cellular iron uptake and its interaction with the HFE protein to regulate hepcidin production. The results showed that hepatocyte TfR1 function depends on HFE and contributes to hepcidin suppression and iron overload in beta-thalassemia. The study also demonstrated the modulatory effect of serum iron on hepcidin regulation by hepatocyte TfR1.
Article
Physiology
Kevin Nay, David Martin, Luz Orfila, Dany Saligaut, Brice Martin, Mathieu Horeau, Thibaut Cavey, Moussa Kenawi, Marie-Laure Island, Martine Ropert, Olivier Loreal, Christelle Koechlin Ramonatxo, Frederic Derbre
Summary: This study investigated the effects of simulated microgravity on iron metabolism in rats, finding that exposure to microgravity leads to iron misdistribution and durable reduction in iron availability. The upregulation of hepcidin in response to microgravity is not a transient adaptation, and skeletal muscle may not play a key role in the iron misdistribution that occurs in this environment.
EXPERIMENTAL PHYSIOLOGY
(2021)
Article
Nutrition & Dietetics
Noemie Le Tallec-Esteve, Chloe Rousseau, Benoit Desrues, Olivier Loreal, Ronan Thibault
Summary: The study found that serum iron parameters were positively associated with the severity of OSAS and time spent under hypoxia, indicating a potential impact of OSAS-induced hypoxia on iron metabolism in obese patients.
CLINICAL NUTRITION
(2021)
Article
Rheumatology
Jean-David Albert, Maena Le Corvec, Olivia Berthoud, Claire David, Xavier Guennoc, Emmanuel Hoppe, Sandrine Jousse-Joulin, Benoit Le Goff, Hugues Tariel, Olivier Sire, Anne Jolivet-Gougeon, Guillaume Coiffier, Olivier Loreal
Summary: The study demonstrates that mid-infrared fibre evanescent wave spectroscopy can effectively differentiate septic from non-septic synovial fluids in a multicentre cohort, and is particularly useful in ruling out septic arthritis.
Review
Hematology
Eolia Brissot, Marie-Berengere Troadec, Olivier Loreal, Pierre Brissot
Summary: Iron plays a crucial role in hematopoiesis, including thrombopoiesis, directing the lineage commitment of progenitor cells. While iron deficiency can lead to thrombocytosis and potentially favor vascular thrombosis, severe iron deficiency anemia can also cause thrombocytopenia. The relationship between iron and platelet function remains debated, with different conditions like iron overload or sequestration leading to diverse effects on platelet counts and functioning.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
Article
Genetics & Heredity
Claude Stoll, Yves Alembik, Marie-Paule Roth
Summary: The frequency and types of anomalies co-occurring with omphalocele and gastroschisis are variable, necessitating screening for anomalies in cases with these conditions.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Microbiology
Thomas Gautier, Sandrine David-Le Gall, Alaa Sweidan, Zohreh Tamanai-Shacoori, Anne Jolivet-Gougeon, Olivier Loreal, Latifa Bousarghin
Summary: The global pandemic caused by the emergence of SARS CoV-2 has led to significant health impacts, with no specific treatment available yet. Alterations in gut microbiota in COVID-19 patients have drawn attention to the potential use of probiotics as alternative therapies.
Article
Multidisciplinary Sciences
Luis Cano, Stephane Bertani, Marie-Laure Island, Juan Pablo Cerapio, Eloy Ruiz, Pascal Pineau, Valerie Monbet, Karim Boudjema, Luis Taxa, Sandro Casavilca-Zambrano, Martine Ropert, Bruno Turlin, Olivier Loreal
Summary: The study analyzed the metallomic profiles of HCC-NC patients from Peru and France, revealing significant differences between the two cohorts, with higher metal concentrations observed in Peruvian patients. The concentrations of metals such as Cu and Se in HCC areas were found to be associated with survival time, indicating similarities in the metallomic profile during hepatic tumorigenesis in these specific patient groups.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Laura E. Diepeveen, Gaby Stegemann, Erwin T. Wiegerinck, Rian Roelofs, Myrthe Naber, Olivier Loreal, Bart Smeets, Frank Thevenod, Dorine W. Swinkels, Rachel P. L. van Swelm
Summary: Hemolysis can cause acute kidney injury, and the iron regulatory hormone hepcidin plays a protective role during this process. The synthesis of renal hepcidin is induced by iron and hemin through the Nrf2 pathway. Kidney-specific mechanisms of hepcidin regulation exist, highlighting the complexity of iron regulatory mechanisms during AKI.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Geriatrics & Gerontology
David Martin, Kevin Nay, Francois Robin, Amelie Rebillard, Luz Orfila, Brice Martin, Patricia Leroyer, Pascal Guggenbuhl, Suzanne Dufresne, Philippe Noirez, Martine Ropert, Olivier Loreal, Frederic Derbre
Summary: This study investigates the impact of iron excess on skeletal muscle structure and metabolic adaptations. The results suggest that skeletal muscle can protect itself from the deleterious effects of iron overload under pathophysiological conditions.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Medicine, General & Internal
Emmanuelle Albalat, Thibault Cavey, Patricia Leroyer, Martine Ropert, Vincent Balter, Olivier Loreal
Summary: Hereditary hemochromatosis is a genetic iron overload disease caused by a mutation in the HFE gene. Using Hfe(-/-) mice, this study found that the concentration of iron and stable isotope composition increased in the liver and red blood cells, but not in the spleen. The results suggest that the increase in whole blood isotope composition in hemochromatosis patients is mainly due to the release of heavy isotope-enriched iron from the liver, rather than increased dietary iron absorption.
FRONTIERS IN MEDICINE
(2021)
Article
Gastroenterology & Hepatology
Amandine Landemaine, Houda Hamdi-Roze, Severine Cunat, Veronique Loustaud-Ratti, Xavier Causse, Si Nafa Si Ahmed, Bernard Drenou, Christophe Bureau, Gilles Pelletier, Caroline De Kerguenec, Nathalie Ganne-Carrie, Stephane Durupt, Fabrice Laine, Olivier Loreal, Martine Ropert, Lenaick Detivaud, Jeff Morcet, Patricia Aguilar-Martinez, Yves M. Deugnier, Edouard Bardou-Jacquet
Summary: Based on the derivation cohort study of ferroportin disease, we have developed a simple and readily available scoring system that can be used for screening in routine clinical practice. The scoring system has good diagnostic performance for identifying patients with ferroportin disease.
JOURNAL OF HEPATOLOGY
(2022)
Article
Immunology
Guillaume Coiffier, Emmanuelle Ducasse, Arthur Keraudren, Emilie Prat, Hortense Modeste, Jean-David Albert, Olivier Loreal, Pascal Guggenbuhl, Anne Jolivet-Gougeon
Summary: The performance of different types of blood culture vials was compared in osteoarticular specimens. The use of these vials shortened the positive detection time, and there was no significant difference in the positivity rate between different vials. It is crucial to use both aerobic and anaerobic vials simultaneously to maximize the positive detection time during diagnostic procedures.
MICROBIAL PATHOGENESIS
(2022)
Review
Medicine, General & Internal
Pierre Allaume, Noemie Rabilloud, Bruno Turlin, Edouard Bardou-Jacquet, Olivier Loreal, Julien Calderaro, Zine-Eddine Khene, Oscar Acosta, Renaud De Crevoisier, Nathalie Rioux-Leclercq, Thierry Pecot, Solene-Florence Kammerer-Jacquet
Summary: This study provides a systematic review of applications and performances of deep neural network algorithms in liver pathology. The results show that DNN models have diverse applications in this field, but most studies have a high risk of bias. Therefore, DNN models in liver pathology present both opportunities and limitations.
Article
Nutrition & Dietetics
Kevin Nay, Mathieu Horeau, Olivier Loreal, Frederic Derbre
Summary: This study discusses the regulation of iron metabolism and the potential harm of iron misdistribution on health under microgravity or bedrest, proposing new ways to improve nutritional care for astronauts and bedridden patients.
CAHIERS DE NUTRITION ET DE DIETETIQUE
(2021)
Article
Rheumatology
F. Robin, O. Berthoud, J. D. Albert, S. Cadiou, A. Gougeon-Jolivet, C. Bendavid, P. Guggenbuhl, Guillaume Coiffier
Summary: The study evaluated the performance of the Gout-calculator in patients with consecutive acute arthritis affecting large and intermediate joints, finding that while the calculator showed relatively good diagnostic performance for gout, it was not sufficient to rule out the differential diagnosis of septic arthritis in the SYNOLACTATE cohort.
CLINICAL RHEUMATOLOGY
(2021)
