Animal studies suggest that decreased vascular mitochondrial DNA copy number can promote hypertension. We conducted a chart review of blood pressure and hemodynamics in patients with either mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, n = 36) or individuals with variants in the mitochondrial DNA polymerase gamma (POLG, n = 26). The latter included both pathogenic variants and variants of unknown significance (VUS). Hypertension rates (MELAS 50%, POLG 50%) were elevated relative to Canadian norms in 20-39 (MELAS) and 40-59 (MELAS and POLG) years of age groups. Peripheral resistance was high in the hypertensive versus normotensive patients, potentially indicative of microvascular disease. Despite antihypertensive treatment, systolic blood pressure remained elevated in the POLG versus MELAS group. The risk of hypertension was not associated with MELAS heteroplasmy. Hypertension rates were not different between individuals with known pathogenic POLG variants and those with VUS, including common variants. Hypertension (HT) also did not differ between patients with POLG variants with (n = 17) and without chronic progressive external opthalmoplegia (n = 9) (CPEO). HT was associated with variants in all three functional domains of POLG. These findings suggest that both pathogenic variants and several VUS in the POLG gene may promote human hypertension and extend our past reports that increased risk of HT is associated with MELAS.

中文翻译：

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m.3243A>G MELAS突变和POLG变异患者高血压发生率高

动物研究表明，血管线粒体 DNA 拷贝数减少可促进高血压。我们对患有线粒体脑病、乳酸性酸中毒和中风样发作（MELAS，n = 36）或线粒体 DNA 聚合酶 γ 变异的个体（POLG，n = 26）的血压和血流动力学进行了图表审查。后者包括致病变异和意义不明的变异（VUS）。在 20-39 (MELAS) 和 40-59 (MELAS 和 POLG) 年龄组中，高血压率（MELAS 50%，POLG 50%）相对于加拿大标准有所升高。与血压正常的患者相比，高血压患者的外周阻力较高，这可能表明微血管疾病。尽管进行了抗高血压治疗，POLG 组与 MELAS 组的收缩压仍然升高。高血压风险与 MELAS 异质性无关。具有已知致病性 POLG 变异的个体和具有 VUS（包括常见变异）的个体的高血压发生率没有差异。高血压（HT）在患有（n = 17）和没有慢性进行性外眼肌麻痹（n = 9）（CPEO）的POLG变异患者之间也没有差异。HT 与 POLG 的所有三个功能域中的变体有关。这些发现表明 POLG 基因中的致病变异和几个 VUS 可能会促进人类高血压并扩展我们过去关于 HT 风险增加与 MELAS 相关的报告。高血压（HT）在患有（n = 17）和没有慢性进行性外眼肌麻痹（n = 9）（CPEO）的POLG变异患者之间也没有差异。HT 与 POLG 的所有三个功能域中的变体有关。这些发现表明 POLG 基因中的致病变异和几个 VUS 可能会促进人类高血压并扩展我们过去关于 HT 风险增加与 MELAS 相关的报告。高血压（HT）在患有（n = 17）和没有慢性进行性外眼肌麻痹（n = 9）（CPEO）的POLG变异患者之间也没有差异。HT 与 POLG 的所有三个功能域中的变体有关。这些发现表明 POLG 基因中的致病变异和几个 VUS 可能会促进人类高血压并扩展我们过去关于 HT 风险增加与 MELAS 相关的报告。