What question did this study set out to answer?

This research aims to investigate the link between the MT-ATP6 A8923G gene mutation and its effects on inflammation and blood pressure during acute high-altitude exposure.

March 1, 2026Open Access

Effects of mitochondrial gene mutation 8923 (A→G) on inflammatory indicators and blood pressure after acute high-altitude exposure

Key Points

This research aims to investigate the link between the MT-ATP6 A8923G gene mutation and its effects on inflammation and blood pressure during acute high-altitude exposure.
Enrolled 84 healthy male volunteers traveling from low altitude to a 4000-m plateau.
Collected peripheral blood for tests and monitored blood pressure and heart activity.
Analyzed physiological indicators to assess the impact of the mutation on acute mountain sickness.
The mutation group exhibited lower levels of C-reactive protein compared to the non-mutation group.
Participants with the mutation had higher levels of high-density lipoprotein cholesterol.
Both 24-hour and nocturnal mean systolic blood pressure were significantly lower in the mutation group.

Abstract

Background In recent years, an increasing number of individuals have traveled to or resided in plateau regions for various reasons. The hypobaric hypoxia characteristics of plateau environments represents a key risk factor for acute mountain sickness (AMS). The pathogenesis of AMS remains incompletely understood. The present study aimed to explore the association between the A8923G point mutation in the mitochondrial MT-ATP6 gene and AMS. Methods We enrolled 84 healthy adult male volunteers who traveled together from the plain (Beijing, 100 m) to a 4000-m plateau in 40 h. Peripheral venous blood was collected for related tests; volunteers also underwent ambulatory blood pressure/electrocardiography monitoring. We analyzed these physiological indicators to examine the association between the MT-ATP6 A8923G mutation and AMS. Results After acute high-altitude exposure, the mutation group had lower C-reactive protein (CRP) 0.04 (0.03,0.04) vs. 0.07 (0.03.0.13), P = 0.045 and higher high-density lipoprotein cholesterol (HDL-C) 1.5 ± 0.4 vs. 1.3 ± 0.3, P = 0.021 than the non-mutation group, plus lower 24-h and nocturnal mean systolic blood pressure (SBP) (all P 0.05), with significant intergroup differences. Conclusion The A8923G point mutation acts as a protective locus against AMS. It was associated with lower high-altitude SBP (more pronounced at night), reduced CRP and elevated HDL-C, possibly by inhibiting inflammation and enhancing blood pressure regulation post high-altitude exposure.

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