Whole-genome sequencing decryption chronic mountain sickness

Completed the Andean highlands who chronic mountain sickness whole genome sequencing and related research, this study was to explore the genetic mechanisms of adaptation provides a theoretical basis, but also for the mechanism of chronic mountain sickness research and treatment to provide a scientific basis.

Approximately 140 million people worldwide Native Plateau, especially living at an altitude of three thousand meters or more people, usually occurs chronic mountain sickness, manifested as polycythemia, and the emergence of a series of headaches, fatigue, drowsiness and other symptoms. This chronic mountain sickness in the South American Andean more common, so also called Andes disease. In this study, the researchers through the Andean genome-wide analysis, trying to explore the genetic mechanism of chronic mountain sickness and high altitude adaptation mechanisms.

In this study, the researchers 20 living in the Andean highlands of whole genome sequencing, including 10 patients with chronic altitude and 10 healthy subjects. After a series of analyzes, the researchers found that the genes located in these regions, the researchers found that, compared to the normal population, in patients with chronic mountain sickness ANP32D and SENP1 significantly higher expression of two genes. It also found that when the Drosophila homologue of SENP1 ANP32D and downregulated when its survival in a hypoxic environment will be significantly increased. Accordingly, they speculated that these genes may be downregulated hypoxic environment conducive to adaptation and tolerance.

Since chronic mountain sickness patients typically exhibit polycythemia, which will make the blood viscosity increases, which will cause tissue ischemia, myocardial infarction. In this study, the researchers found that patients with chronic mountain sickness genes responsible for regulating erythropoiesis – SENP1 upregulation, which may lead to chronic mountain sickness symptoms in patients with polycythemia play an important role. Furthermore, ANP32D oncogenes is known, the researchers speculate that patients in chronic mountain sickness, the genes in cancer cells with a similar way to change the cell metabolism, so that the cells proliferate under hypoxia.

These findings will also help to reveal issued under similar circumstances occurring chronic mountain sickness pathological mechanisms, such as heart disease, obstructive sleep apnea syndrome.

1. Prev:Nike Free Sko the school your kids start studying
2. Next:Online Dental Journals How these have revolutionized Science