Unraveling the genetic secrets of survival: Discover how the variations in the RHCE gene, responsible for the Rhesus blood group, influence blood oxygen levels in populations living at the dizzying heights of high altitudes.
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Genetic polymorphisms and expression of Rhesus blood group RHCE are associated with 2,3-bisphosphoglycerate in humans at high altitude.
D’Alessandro et al., Proc Natl Acad Sci U S A 2024
DOI: 10.1073/pnas.2315930120
The study investigates how red blood cells (RBCs) adapt to high altitude hypoxia through metabolic reprogramming. Initially, a multi-omics analysis was conducted on RBCs from six individuals at sea level, at 5,100 meters altitude, and upon return to sea level. The analysis revealed a link between levels of 2,3-bisphosphoglycerate (BPG), a molecule that helps RBCs release oxygen under hypoxic conditions, and the expression of RHCE protein, part of the Rhesus blood group.
To further explore this association, the researchers measured BPG levels in RBCs from 13,091 blood donors. Using these measurements, a genome-wide association study (GWAS) was performed, which identified genetic variations in the RHCE gene region as significant influencers of BPG levels in RBCs.
What’s new: The study connects RHCE protein expression with BPG levels in RBCs and identifies genetic determinants of BPG levels through a GWAS.
Importance: This research enhances our understanding of the genetic and molecular basis of human adaptation to high-altitude hypoxia, which has implications for health and disease.
Contribution to literature: The findings suggest a mechanistic role for the Rh group complex in regulating intracellular pH and BPG mutase activity, offering new insights into the physiological response to hypoxia.