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

## TL;DR

This study shows that a specific mitochondrial gene mutation may protect against high-altitude sickness by reducing inflammation and improving blood pressure.

## Contribution

The study identifies the A8923G mutation in MT-ATP6 as a protective factor against acute mountain sickness.

## Key findings

- Mutation carriers had lower C-reactive protein and higher HDL-C after high-altitude exposure.
- The mutation group showed reduced systolic blood pressure, especially at night.
- The mutation may protect against AMS by inhibiting inflammation and improving blood pressure regulation.

## Abstract

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.

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.

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.

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.