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Sickle cell disease (SCD), the most common severe monogenic disease in the world, is known for the hallmark vaso-occlusive crises that cause great suffering and degradation of health for these patients. In 1949, the discovery of the abnormal sickle cell hemoglobin protein (HbS) β-globin chain revealed a mutation where glutamic acid is replaced with a valine (β6Glu→Val). From this discovery came the pathophysiological mechanism based on the abnormal polymerization of deoxy-HbS. While an important discovery, this initial mechanism has yet been able to account for the cascade of events that trigger these crises and has therefore offered few treatment options for these patients. In red blood cells, alterations to membrane structure lead to changes in their biomechanical behaviors. A literature review has been conducted and a possible sickle cell pathophysiological mechanism that involves the potential for abnormal polymerization of the critical actin protein (in the spectrin-actin complex) within the red blood cell cytoskeleton has been identified. This review will discuss the interaction of valine and glucose on the HbS molecule and how it may lead to a destabilization of the HbS red blood cell cytoskeleton and SCD crises.
This article was published in the following journal.
Name: Discovery medicine
The assembly of protein actin into double-helical filaments promotes many eukaryotic cellular processes that are regulated by actin binding proteins (ABPs). Actin filaments can adopt multiple conforma...
Spectrin, the major protein component of the erythrocyte membrane skeleton has chaperone like activity and is known to bind membrane phospholipids and hemoglobin. We have probed the chaperone activity...
Synapses are enriched in the cytoskeletal protein actin, which determines the shape of the pre- and post-synaptic compartments, organizes the neurotransmitter release machinery, and provides a framewo...
4-HNE-modified ankyrin have been described in diseases such as diabetes, renal failure, G6PD deficient, sickle cell trait and P. falciparum infected erythrocytes with different AB0 blood groups. Howev...
The heterozygous form of sickle cell disease is clinically asymptomatic. Nevertheless, it was observed that, the sickle cell trait is associated with serious medical complications especial...
To determine the retinal and choroidal thickness in patients with sickle cell disease compared to age, race matched population without sickle cell disease to allow a better understanding o...
In Sickle cell disease children, sleep respiratory abnormalities are risk factors for vaso-occlusive complications, as well as cerebral vasculopathy. The study involves: - A 18 ...
The purpose of this study is to determine the safety and clinical effects of SCD-101 when given to adults with sickle cell disease. SCD-101 inhibits sickling of red blood cells containing ...
A Phase 2a randomized, placebo-controlled, multicenter study of orally administered IMR-687 in adults with Sickle Cell Anaemia (SCA).
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
A plakin characterized by repeat sequences homologous to SPECTRIN and PLECTIN and C-terminal EF HAND MOTIFS. It functions as an integrator of INTERMEDIATE FILAMENTS, ACTIN and MICROTUBULES in cytoskeleton networks. It is required for anchoring intermediate filaments to the actin cytoskeleton in neural and muscle cells as well as anchoring KERATIN-containing intermediate filaments to HEMIDESMOSOMES in EPITHELIAL CELLS.
Reciprocal action of two vertebrate photoreceptor cells (RODS AND CONES). Rod-cone interaction occurs during MESOPIC VISION in which both rods and cones are active in light transduction to the VISUAL CORTEX. Such interaction can influence visual sensitivity and luminous efficiency.
A family of low MOLECULAR WEIGHT actin-binding proteins found throughout eukaryotes. They remodel the actin CYTOSKELETON by severing ACTIN FILAMENTS and increasing the rate of monomer dissociation.
An actin capping protein that binds to the barbed-ends of ACTIN filaments. It is a heterodimer consisting of an alpha and a beta subunit. It regulates actin assembly by stabilizing actin oligomers for elongation. In SKELETAL MUSCLE, CapZ is localized to the Z-disk.
Blood is a specialized bodily fluid that delivers necessary substances to the body's cells (in animals) – such as nutrients and oxygen – and transports waste products away from those same cells. In vertebrates, it is composed of blo...
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...