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New Molecular Insights into Red Blood Cell Dynamics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (31 October 2024) | Viewed by 3750

Special Issue Editor


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Guest Editor
Red Blood Cell and Hematopoietic Disorders Research Laboratory, Institute for Leukaemia Research Josep Carreras, Ctra de Can Ruti, Camí de les Escoles s/n, 08916 Barcelona, Spain
Interests: sickle-cell disease (SCD); thalassaemia; RBC enzymes deficiencies; hereditary membranopathies
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Special Issue Information

Dear Colleagues, 

This chapter will explore the latest molecular insights into the dynamics of red blood cells (RBCs), emphasizing the implications for understanding diseases and advancing medical treatments. We will delve into the biogenesis of RBCs, their lifecycle, and the molecular mechanisms governing their function and degradation. Recent advances in molecular biology and genetics will be highlighted, showcasing how these findings could revolutionize therapies for blood disorders. 

Introduction to Red Blood Cells

Brief overview of RBCs’ function and importance

  • Transport of oxygen and carbon dioxide;
  • Role in homeostasis and immune system interactions.

Historical perspective

  • Evolution of understanding from early microscopic observations to molecular insights.

Biogenesis and Development

Erythropoiesis

  • Detailed molecular pathways involved in RBC maturation from hematopoietic stem cells;
  • Role of erythropoietin and other growth factors.

Genetic regulation

  • Key genes and their regulatory mechanisms;
  • Impact of mutations on RBC development.

RBCs’ Lifespan and Degradation

Mechanisms of aging in RBCs

  • Changes in membrane composition and flexibility;
  • Role of oxidative stress and autophagy.

Clearance from circulation

  • Interaction with macrophages in the spleen;
  • Molecular signals that tag aged or damaged RBCs for removal.

Molecular Pathways in Disease

Common RBC disorders

  • Anemias: Iron deficiency, sickle cell disease, thalassemias;
  • Hereditary spherocytosis and other membrane defects.

Molecular targets for therapy

  • Recent breakthroughs in targeted treatments;
  • Potential for gene therapy and CRISPR/Cas9 applications.

Frontiers in RBC Research

Innovative diagnostic techniques

  • High-throughput sequencing and proteomics;
  • Advanced imaging techniques.

Emerging therapies

  • Novel pharmacological approaches;
  • Regenerative medicine and stem cell therapy.

Conclusions

Summary of key findings

  • Recap of molecular insights and their implications for disease management;
  • Future directions;
  • Predictions for new research areas;
  • Potential impacts of emerging technologies on RBC research.

This chapter aims to provide a comprehensive update on the molecular dynamics of red blood cells, bringing together recent research that sheds light on their development, function, and role in disease. By exploring both foundational concepts and cutting-edge advances, the chapter will serve as a valuable resource for students and researchers alike, paving the way for future discoveries and innovations in the field of hematology. 

Prof. Dr. Joan-Lluis Vives-Corrons
Guest Editor

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Keywords

  • erythropoiesis
  • oxidative stress
  • genetic regulation
  • anemia
  • molecular therapy

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Published Papers (2 papers)

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Review

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29 pages, 1297 KiB  
Review
The Roles of Oxidative Stress and Red Blood Cells in the Pathology of the Varicose Vein
by Lukasz Gwozdzinski, Anna Pieniazek and Krzysztof Gwozdzinski
Int. J. Mol. Sci. 2024, 25(24), 13400; https://doi.org/10.3390/ijms252413400 - 13 Dec 2024
Cited by 1 | Viewed by 1388
Abstract
This review discusses sources of reactive oxygen species, enzymatic antioxidant systems, and low molecular weight antioxidants. We present the pathology of varicose veins (VVs), including factors such as hypoxia, inflammation, dysfunctional endothelial cells, risk factors in varicose veins, the role of RBCs in [...] Read more.
This review discusses sources of reactive oxygen species, enzymatic antioxidant systems, and low molecular weight antioxidants. We present the pathology of varicose veins (VVs), including factors such as hypoxia, inflammation, dysfunctional endothelial cells, risk factors in varicose veins, the role of RBCs in venous thrombus formation, the influence of reactive oxygen species (ROS) and RBCs on VV pathology, and the role of hemoglobin in the damage of particles and macromolecules in VVs. This review discusses the production of ROS, enzymatic and nonenzymatic antioxidants, the pathogenesis of varicose veins as a pathology based on hypoxia, inflammation, and oxidative stress, as well as the participation of red blood cells in the pathology of varicose veins. Full article
(This article belongs to the Special Issue New Molecular Insights into Red Blood Cell Dynamics)
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11 pages, 840 KiB  
Case Report
Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence
by Balázs Sonkodi, Tímea Kováts, Bence Gálik, Márton Tompa, Péter Urbán, Zsófia Flóra Nagy, Pongrác Ács, Miklós Tóth and Attila Gyenesei
Int. J. Mol. Sci. 2024, 25(21), 11842; https://doi.org/10.3390/ijms252111842 - 4 Nov 2024
Cited by 1 | Viewed by 1913
Abstract
Competitive athletes are often exposed to extreme physiological loading, resulting in over excessive mechanotransduction during their acute intensive training sessions and competitions. Individual differences in their genetics often affect how they cope with these challenges, as reflected in their high performances. Olympic Medalists [...] Read more.
Competitive athletes are often exposed to extreme physiological loading, resulting in over excessive mechanotransduction during their acute intensive training sessions and competitions. Individual differences in their genetics often affect how they cope with these challenges, as reflected in their high performances. Olympic Medalists are prohibited from providing atypical values in the Hematological Module of the Athlete Biological Passport. Since there was no aphysiological result and the Athlete maintained his innocence, a whole genome sequence analysis was carried out on him and his parents, with the primary focus on the PIEZO ion channels encoding gene. PIEZO1 is known to participate in homeostatic regulation even on a whole-body level, including the regulation of physical performance, circulatory longevity of red blood cells and cell fate determination of mesenchymal stem cells in relation to hydrostatic pressure. However, PIEZO2 was found to be the principal mechanosensory ion channel for proprioception. These regulatory mechanisms play a pivotal role in mechanotransduction and intensive exercise moments. Interestingly, two variances of uncertain significance of PIEZO1 were found that may explain the atypical values of the Athlete. Furthermore, two additional variances in SDC2, the syndcan-2 encoding gene, were identified in trans position that may influence the crosstalk between PIEZO2 and PIEZO1, with more likely relevance to the detected atypical values. After all, based on the found variances of PIEZO1 and syndecan-2, it cannot be ruled out that these VUS variants may have caused or impacted the exhibited outlier findings of the ABP Hematological Module of the Athlete. Full article
(This article belongs to the Special Issue New Molecular Insights into Red Blood Cell Dynamics)
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