Department of Chemistry, Biology and Biotechnology, University of Perugia, 06100 Perugia, Italy.
Hematology and Bone Marrow Transplantation Unit, Laboratory of Molecular Medicine (CREO), Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy.
Int J Mol Sci. 2023 Jan 28;24(3):2529. doi: 10.3390/ijms24032529.
Sickle cell disease (SCD) is one of the most common severe monogenic disorders in the world caused by a mutation on gene and characterized by hemoglobin polymerization, erythrocyte rigidity, vaso-occlusion, chronic anemia, hemolysis, and vasculopathy. Recently, the scientific community has focused on the multiple genetic and clinical profiles of SCD. However, the lipid composition of sickle cells has received little attention in the literature. According to recent studies, changes in the lipid profile are strongly linked to several disorders. Therefore, the aim of this study is to dig deeper into lipidomic analysis of erythrocytes in order to highlight any variations between healthy and patient subjects. 241 lipid molecular species divided into 17 classes have been annotated and quantified. Lipidomic profiling of SCD patients showed that over 24% of total lipids were altered most of which are phospholipids. In-depth study of significant changes in lipid metabolism can give an indication of the enzymes and genes involved. In a systems biology scenario, these variations can be useful to improve the understanding of the biochemical basis of SCD and to try to make a score system that could be predictive for the severity of clinical manifestations.
镰状细胞病 (SCD) 是世界上最常见的严重单基因疾病之一,由 基因突变引起,其特征为血红蛋白聚合、红细胞刚性、血管阻塞、慢性贫血、溶血和血管病变。最近,科学界一直关注 SCD 的多种遗传和临床特征。然而,镰状细胞中的脂质组成在文献中很少受到关注。根据最近的研究,脂质谱的变化与多种疾病密切相关。因此,本研究旨在深入挖掘红细胞的脂质组学分析,以突出健康受试者和患者之间的任何差异。已经注释和定量了 241 种脂质分子种类,分为 17 类。SCD 患者的脂质组学分析显示,超过 24%的总脂质发生了改变,其中大多数是磷脂。对脂质代谢的显著变化进行深入研究,可以提示涉及的酶和基因。在系统生物学的情况下,这些变化可以帮助更好地了解 SCD 的生化基础,并尝试建立一个可能对临床表现严重程度具有预测性的评分系统。