The Correlation Between Mitochondrial DNA Variation And Acute Mountain Sickness In Young Han Males

Objective:Although it’s undoubtedly the acute exposure to hypobaric hypoxia that triggers acute mountain sickness(AMS),the exact process has not been fully revealed.In recent years,genome-wide studies have shown genetic basis of high altitude adaptions.Whether genetie factors play a role in the susceptibility of various high-altitude diseases has also gained much interest.Previous studies have provided evidence for a link between AMS and certain nuclear genes and mitochondrial haplogroup.The correlation between point mutations of mitochondrial DNA(mtDNA)and AMS was forther explored in this study.Methods:Eighty-four young Han males residing at low altitude were taken to an elevation of 4000 m within 40 hours.We collected data of heart rate,blood pressure,oxygen saturation and obtained blood samples,at sea level and at altitude.At altitude,AMS was diagnosed using the revised version of Lake Louise Questionnaire Score.Next-generation sequencing was utilized to identify the association between mtDNA alleles and AMS.Also,we assessed the association between the presence of AMS and physiological variables we measured,Provided a preliminary discussion of association between genotypic and phenotypic variation.Results:1.The percentage of neutrophils(OR 1.06,95%Cl 1.01-1.12,P<0.05)and oxygen saturation level(OR 0.87,95%Cl 0.79-0.95,P<0.05)were independently associated with the development of AMS.2.A4576G was a risk factor for AMS(OR 6.27,95%CI 1.2-32.7,P<0.05).T11613C(OR 0.105 95%CI 0.01-0.83,P<0.05),A8923G(OR 0.15,95%CI 0.03-0.76,P<0.05)and T5543C(OR 0.19,95%CI 0.04-0.95,P<0.05)were protective factors for AMS.3.The level of oxygen saturation was significantly lower in the A4576G+group as compared with A4576G-group(68.1±7.9%vs.75.8±6.1%,P<0.05).4.The level of serum sodium was significantly higher in the A8923G+group as compared with A8923G-group(144.6±1.9 mmol/L 143.2±1.9 mmol/L,P<0.05).Conclusions:1.The increase of neutrophils and the ability to preserve oxygen satoration may be associated with the development of AMS in young Han males.2.A4576G is a risk factor for AMS in young Han males,which may correlate with the ability to preserve oxygen saturation after acute exposure to altitude.T11613C,A8923G and T5543C are protective factors for AMS in young Han males.The role of A8923G may correlate with the sodium and water balance after acute exposure to altitude.