Champagne · Characterisation of high altitude metabolic phenotype driven by unique Andean genetics.

Characterisation of high altitude metabolic phenotype driven by unique Andean genetics.

The problem/issue being addressed: Oxygen is essential for human life, enabling generation of energy to power cellular processes. If there is less oxygen in our body (hypoxia), this stresses our cells and may result in cell death. Hypoxic stress occurs in many diseases of the heart, lung and vascular systems. It can also be experienced at high-altitude, where there is less oxygen in the air. Despite the hypoxic stress of living at high-altitude, human populations have adapted to live and reproduce there. Some of the genetic changes linked to that adaptation have been identified. However, we don’t know how subtle changes in genes help the complex biological problem of chronic hypoxia. Of particular interest are the adaptative changes related to oxidative metabolism, whereby oxygen consumption is required for the breakdown of substrates consumed in the diet to release energy. Why is it important for society: Together, my work furthers our understanding of the molecular mechanisms critical for tolerance and ultimately survival in hypoxia in all contexts. This includes human adaptation to the high-altitude environment where hypobaric hypoxia threatens human survival as well as highly prevalent hypoxia-related pathological conditions. This encompasses disease states that span all life stages such as those impacting the heart, lung and circulation and reproductive health. Overall objectives: My project is concerned with understanding how genetic variants linked to hypoxic adaptation affect whole-body physiology and metabolism within cells. Conclusions of the action: My work provides insight into molecular mechanisms downstream of genetic signals of high-altitude adaptation in Andeans. My work was focused upon signals within genes that are known to impact human metabolism. I demonstrated changes to metabolic function downstream of these signals in human cells and in tissue (placenta). These changes point towards suppression of oxygen consuming metabolic processes, which may indicate optimisation of oxygen use at high-altitude where oxygen supply is limited.

Текст от CORDIS, на английски · Данни: CORDIS, © Европейски съюз