Washington: Researchers have decoded the genetic basis of chronic mountain sickness (CMS) or Monge`s disease.
Their study provides important information that validates the genetic basis of adaptation to high altitudes, and provides potential targets for CMS treatment.
More than 140 million people have permanently settled on high-altitude regions, on continents ranging from African and Asia to South America. The low-oxygen conditions at such high altitudes present a challenge for survival, and these geographically distinct populations have adapted to cope with hypoxia, or low levels of oxygen in the blood.
Interestingly, many humans living at high elevations, particularly in the Andes mountain region of South America, are maladapted and suffer CMS. The disease is characterized by an array of neurologic symptoms, including headache, fatigue, sleepiness and depression.
Often, people with CMS suffer from strokes or heart attacks in early adulthood because of increased blood viscosity (resistance to blood flow that can result in decreased oxygen delivery to organs and tissues).
Past studies of various populations show that CMS is common in Andeans, occasionally found in Tibetans and absent from Ethiopians living on the East African high-altitude plateau.
Therefore, the researchers dissected the genetic mechanisms underlying high-altitude adaptation by comparing genetic variation between Peruvian individuals from the Andes region with CMS and adapted subjects without CMS, using whole genome sequencing.
They identified two genes, ANP32D and SENP1, with significantly increased expression in the CMS individuals when compared to the non-CMS individuals, and hypothesized that down-regulating these genes could be beneficial in coping with hypoxia.
Principal investigator Gabriel G. Haddad , Distinguished Professor and chair of the Department of Pediatrics at UC San Diego School of Medicine, and Physician-in-Chief and Chief Scientific Officer at Rady Children`s Hospital-San Diego, a research affiliate of UC San Diego, said that while a number of published articles have described an association between certain genes and the ability for humans to withstand low oxygen at high levels, it was very hard to be sure if the association was causal.
The researchers therefore looked at genetic orthologs - corresponding gene sequences from another species, in this case the fruit fly - to assess the impact of observed genetic changes on function under conditions of hypoxia.
The study is set to be published online in the American Journal of Human Genetics.
ANI
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts.
Cookies Setting
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device and the processing of information obtained via those cookies (including about your preferences, device and online activity) by us and our commercial partners to enhance site navigation, personalise ads, analyze site usage, and assist in our marketing efforts. More information can be found in our Cookies and Privacy Policy. You can amend your cookie settings to reject non-essential cookies by clicking Cookie Settings below.
Manage Consent Preferences
Strictly Necessary Cookies
These cookies are necessary for the website to function and cannot be switched off in our systems. They are usually only set in response to actions made by you which amount to a request for services, such as setting your privacy preferences, logging in or filling in forms. You can set your browser to block or alert you about these cookies, but some parts of the site will not then work or you may not be able to login.
Functional Cookies
These cookies enable the website to provide enhanced functionality and personalisation. They may be set by us or by third party providers whose services we have added to our pages. If you do not allow these cookies then some or all of these services may not function properly.
Targeting Cookies
These cookies may be set through our site by our advertising partners. They may be used by those companies to build a profile of your interests and show you relevant adverts on other sites. They are also used to limit the number of times you see an advert as well as help measure the effectiveness of an advertising campaign. They do not store directly personal information, but are based on uniquely identifying your browser and internet device. If you do not allow these cookies, you will experience less targeted advertising.
Performance Cookies
These cookies allow us to count visits and traffic sources so we can measure and improve the performance of our site. They help us to know which pages are the most and least popular and see how visitors move around the site. All information these cookies collect is aggregated and therefore anonymous. If you do not allow these cookies we may not know when you have visited our site, and may not be able to monitor its performance.