TARGOVNIK Hector Manuel
The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature
SCHEPS, KAREN G.; VARELA, VIVIANA; TARGOVNIK , HÉCTOR M.
TAYLOR & FRANCIS INC
Lugar: Londres; Año: 2018 vol. 42 p. 310 - 310
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 a- and b-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 a-globin chaperone a Hb-stabilizing protein (AHSP) inthe 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.