Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?
Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?
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DOI：
10.1016/j.mito.2015.04.005
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发表时间：
2015-07-01
期刊：
影响因子：
4.4
通讯作者：
Gardner, Ann
中科院分区：
文献类型：
--
作者：
Boles, Richard G.;Zaki, Essam A.;Gardner, Ann
大约20%的人口患有“功能性综合症”。由于这些综合征在共病、病理生理学（包括异常自主活动）和治疗反应方面有很大重叠，因此推测了常见的诱发遗传因素。我们之前已经证明，位置 16519 和 3010 的两种常见线粒体 DNA (mtDNA) 多态性与偏头痛、周期性呕吐综合征和非特异性腹痛等功能性综合征有统计相关性。在此，在具有 mtDNA 单倍群 H (HgH) 的个体中，在其他功能综合征中确定了这两种 mtDNA 多态性的存在：慢性疲劳综合征、复杂区域疼痛综合征、婴儿猝死综合征和重度抑郁症。比较了疾病组和对照组之间以及每个疾病组内有或没有特定临床表现的参与者的多态性患病率。在所有四种病症中，一种或两种多态性与各自的病症和/或共病功能症状显着相关。因此，我们得出的结论是，这两种 mtDNA 多态性可能会改变多种功能综合征的发生风险，可能构成假定的共同遗传因素的一部分，至少在 HgH 患者中是这样。病理生理学可能涉及对自主神经系统的广泛影响。 (C) 2015 Elsevier B.V. 和线粒体研究协会。版权所有。
About 20% of the population suffers from "functional syndromes". Since these syndromes overlap greatly in terms of co-morbidity, pathophysiology (including aberrant autonomic activity) and treatment responses, common predisposing genetic factors have been postulated. We had previously showed that two common mitochondrial DNA (mtDNA) polymorphisms at positions 16519 and 3010 are statistically associated with the functional syndromes of migraine, cyclic vomiting syndrome and non-specific abdominal pain. Herein, among individuals with mtDNA haplogroup H (HgH), the presence of these two mtDNA polymorphisms were ascertained in additional functional syndromes: chronic fatigue syndrome, complex regional pain syndrome, sudden infant death syndrome, and major depressive disorder. Polymorphic prevalence rates were compared between disease and control groups, and within each disease group in participants with and without specific clinical findings. In all four conditions, one or both of the polymorphisms was significantly associated with the respective condition and/or co-morbid functional symptomatology. Thus, we conclude that these two mtDNA polymorphisms likely modify risk for the development of multiple functional syndromes, likely constituting a proportion of the postulated common genetic factor, at least among individuals with HgH. Pathophysiology likely involves broad effects on the autonomic nervous system. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved.