Scheps Karen G, Varela Viviana, Targovnik Héctor M
a Departamento de Microbiología , Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Inmunología, Biotecnología y Genética/Cátedra de Genética , Buenos Aires , Argentina.
b Instituto de Inmunología, Genética y Metabolismo (INIGEM) , CONICET-Universidad de Buenos Aires , Buenos Aires , Argentina.
Hemoglobin. 2018 Sep-Nov;42(5-6):310-314. doi: 10.1080/03630269.2018.1544145. Epub 2018 Dec 17.
Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population. The risk allele was found in thalassemia patients who exhibited more severe phenotypes than expected. Future studies may help establish the role of these chaperones as modifiers in pathological states with globin chain imbalance, such as thalassemia.
血红蛋白（Hb）的合成是一个复杂且协调良好的过程，需要分子伴侣参与。这些分子伴侣在不同步骤发挥作用：调节α-和β-珠蛋白基因簇充分表达所需的表观遗传机制，结合新生肽并帮助它们获得天然结构，防止游离珠蛋白链造成氧化损伤，以及防止必需的红系转录因子被裂解。本研究分析了阿根廷人群中α-珠蛋白伴侣α血红蛋白稳定蛋白（AHSP）内含子1中单核苷酸多态性（SNP）rs4296276的分布情况。在表现出比预期更严重表型的地中海贫血患者中发现了风险等位基因。未来的研究可能有助于确定这些分子伴侣在珠蛋白链失衡的病理状态（如地中海贫血）中作为修饰因子的作用。
