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Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain.
27 Νοε 2019 · 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.
20 Απρ 2021 · Several retrospective and single-arm prospective studies have shown a positive effect of vaginal (CO 2 or erbium) laser for genitourinary symptoms related to sexual dysfunction, such as vaginal dryness, dyspareunia, vaginal itching, and burning in breast cancer survivors (appendix pp 15–16).
Mutations in BRCA 1/2 genes are associated with an increased risk of breast and ovarian cancers . PARP (poly-(ADP-ribose) polymerase protein) proteins are also involved in the DNA damage response as they recruit DNA repair proteins, such as BRCA1 and BRCA2, to the damage site [ 196 ].
20 Ιουν 2016 · There were significantly high RRs for cancers of the stomach, colon, pancreas, prostate and kidney. RRs became low for two cancers in which risks in Blacks are known to be lower than those in Whites: non-melanoma skin cancer (0.6, 0.3–1.0) and breast cancer in women (0.5, 0.3–0.8).
Anti-sickling protein coding gene addition, fetal globin induction via knocking-down/ silencing of repressors of γ-globin gene, and sickle mutation correction with genome engineering tools, particularly CRISPR/Cas9, are the main genetic approaches for sickle cell disease.
Agents that target bases of complications seen in sickle cell disease such as inflammation, cellular adhesion, oxidant injury, platelets and coagulation, vascular tone, hemoglobin polymerization, and ultimately, gene therapy to correct the β s point mutation are presently under active investigation.
