Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation
Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation
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DOI：
10.1007/8904_2013_239
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发表时间：
2014-01-01
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影响因子：
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通讯作者：
Mattman, Andre
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作者：
Hannah-Shmouni, Fady;Sirrs, Sandra;Mattman, Andre
背景：线粒体疾病患者高血压的病理生理学与普通人群不同。越来越多的证据表明，线粒体DNA及其突变和线粒体功能障碍与高血压的发病机制有关。没有关于晚发性mtDNA疾病中高血压患病率的报道已经被描述。方法：我们对1999年1月至2012年1月期间在我们中心患有晚发性mtDNA疾病的成人患者进行了回顾性图表审查。我们将他们分为年龄组，以便与以前报道的加拿大健康措施调查（CHMS）患病率data.Results：23例高血压患者的粗患病率为39.7%（95%CI 27- 53%）相比，CHMS年龄预测的患病率为30.5%。当按个体年龄组进行分析时，在40岁及以上队列中观察到的患病率与CHMS预测的患病率之间无显著差异（年龄类别40-59，p - 0.63;年龄类别60-79，p - 0.85）。然而，在40岁以下队列中，高血压发生率显著高于预测值（55.6% vs. 2.8%，p < 0.001，CI 21- 86%），其中MELAS m.3243A>G突变的高血压患者显著聚集（p < 0.01）。这个年轻的MELAS队列（n = 4，平均年龄= 24岁）高血压患者的水平异质性（平均= 68%），显著高于老年非高血压MELAS队列中的水平（n = 8，平均年龄-52岁，平均值= 33%）（p = 0.04）。相对于年龄、性别和mtDNA疾病亚型，具有高异质性水平的MELAS m.3243A>G突变的年轻人显示高血压患病率增加。需要进一步的前瞻性数据来证实这一初步发现，
Background: The pathophysiology of hypertension in patients with mitochondrial diseases is different from that of the general population. Growing evidence exists linking mtDNA, its mutations, and mitochondrial dysfunction to the pathogenesis of hypertension. No reports on the prevalence of hypertension in late-onset mtDNA diseases have been described.Methods: We performed a retrospective chart review of adult patients with late-onset mtDNA diseases between January 1999 and January 2012 at our center. We grouped them into age categories to allow comparison with previously reported Canadian Health Measures Survey (CHMS) prevalence data.Results: Twenty-three subjects with hypertension were identified for a crude prevalence of 39.7 % (95 % CI 27-53 %) as compared to the CHMS age-predicted prevalence of 30.5 %. When analyzed by individual age group, there were no significant differences between the observed and the CHMS predicted prevalence rates in the 40 years and older cohorts (age category 40-59, p - 0.63; age category 60-79, p - 0.85). However, hypertension rates were significantly higher than predicted in the under 40 years cohort (55.6 vs. 2.8 %, p < 0.001, CI 21-86 %), in which hypertensive patients with the MELAS m.3243A>G mutation were significantly clustered (p < 0.01). This younger MELAS cohort (n = 4, mean age = 24 years) with hypertension had heteroplasmy levels (mean = 68 %) that were significantly higher than the levels found in the older non-hypertensive MELAS cohort (n = 8, mean age - 52 years, mean = 33 %) (p = 0.04).Conclusion: Relative to age, gender, and mtDNA disease subtype, young adults with high heteroplasmy levels of the MELAS m.3243A>G mutation demonstrate an increased prevalence of hypertension. Further prospective data are needed to confirm this initial finding,