SENP1 but not fetal hemoglobin differentiates chronic mountain sickness from healthy Andean highlanders.

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SENP1 but not fetal hemoglobin differentiates chronic mountain sickness from healthy Andean highlanders.

Exp Hematol. 2016 Mar 4;

Authors: Hsieh MM, Callacondo D, Rojas-Camayo J, Quesada-Olarte J, Wang X, Uchida N, Maric I, Remaley AT, Leon-Velarde F, Villafuerte FC, Tisdale JF

Abstract
Chronic mountain sickness (CMS) results from chronic hypoxia. It is unclear why certain highlanders develop CMS. We hypothesized modest increases in fetal hemoglobin (HbF) is associated with lower CMS severity. In this cross-sectional study, we showed that normal HbF levels (median 0.4%) were found in all 153 adult Andean natives in Cerro de Pasco, Peru. Compared to healthy adults, the borderline elevated hemoglobin group frequently had symptoms (headaches, tinnitus, cyanosis, dilatation of veins) of CMS. Although the mean hemoglobin levels differed between healthy (17.1) and CMS (22.3 g/dL) groups, mean plasma erythropoietin (EPO) levels were similar (healthy, 17.7; CMS, 12.02 mIU/mL). Sanger sequencing showed SNPs in endothelial PAS domain 1 (EPAS1) and egl nine homolog 1 (EGLN1), associated with lower hemoglobin in Tibetans, were not identified in Andeans. Sanger sequencing of sentrin-specific protease 1 (SENP1) and acidic nuclear phosphoprotein 32 family, member D (ANP32D), in healthy and CMS individuals showed that non-G/G genotypes were associated with higher CMS score. No JAK2 V617F mutation was detected in CMS individuals. Thus HbF or other classic erythropoietic parameters were not different between healthy and CMS individuals. However, the non-G/G genotypes of SENP1 appeared to differentiate CMS from healthy Andean highlanders.

PMID: 26952840 [PubMed - as supplied by publisher]

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