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New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness

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dc.contributor.author Villafuerte, Francisco C.
dc.date.accessioned 2019-02-06T14:59:06Z
dc.date.available 2019-02-06T14:59:06Z
dc.date.issued 2015
dc.identifier.uri https://hdl.handle.net/20.500.12866/5528
dc.description.abstract In the last few years, genetic and functional studies have provided important insight on the pathophysiology of excessive erythrocytosis (EE), the main sign of Chronic Mountain Sickness (CMS). The recent finding of the association of the CMS phenotype with a single-nucleotide polymorphism (SNP) in the Sentrin-specific Protease 1 (SENP1) gene, and its differential expression pattern in Andean highlanders with and without CMS, has triggered large interest in high-altitude studies because of the potential role of its gene product in the control of erythropoiesis. The SENP1 gene encodes for a protease that regulates the function of hypoxia-relevant transcription factors such as Hypoxia-Inducible Factor (HIF) and GATA, and thus might have an erythropoietic regulatory role in CMS through the modulation of the expression of erythropoietin (Epo) or Epo receptors. The different physiological patterns in the Epo-EpoR system found among Andeans, even among highlanders with CMS, together with their different degrees of erythropoietic response, might indicate specific underlying genetic backgrounds, which in turn might reflect different levels of adaptation to lifelong high-altitude hypoxia. This minireview discusses recent genetic findings potentially underlying EE and CMS, and their possible physiological mechanisms in Andean highlanders. en_US
dc.language.iso eng
dc.publisher American Physiological Society
dc.relation.ispartofseries Journal of Applied Physiology
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Humans en_US
dc.subject high altitude en_US
dc.subject Chronic Disease en_US
dc.subject South America en_US
dc.subject Altitude en_US
dc.subject excessive erythrocytosis en_US
dc.subject Andes en_US
dc.subject Chronic Mountain Sickness en_US
dc.subject chronic hypoxia en_US
dc.subject Altitude Sickness/blood/complications/genetics/physiopathology en_US
dc.subject Polycythemia/blood/complications/genetics/physiopathology en_US
dc.title New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1152/japplphysiol.00271.2015
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.08
dc.relation.issn 1522-1601


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