Role of heteroplasmic mutations in the mitochondrial genome and the ID4 gene promoter methylation region in the pathogenesis of chronic aplastic anemia in patients suffering from Kidney yin deficiency
Role of heteroplasmic mutations in the mitochondrial genome and the ID4 gene promoter methylation region in the pathogenesis of chronic aplastic anemia in patients suffering from Kidney yin deficiency
复制标题
线粒体基因组异质性突变及ID4基因启动子甲基化区在肾阴虚慢性再生障碍性贫血发病中的作用
DOI：
10.1007/s11655-014-1813-7
复制
发表时间：
2016
影响因子：
2.9
通讯作者：
Xin Wang
中科院分区：
文献类型：
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作者：
X. Cui;Jing;Kui Liu;S. Cui;Jie Zhang;Ya;Xin Wang
目的分析慢性再生障碍性贫血（CAA）肾阴虚、肾阳虚证患者线粒体基因组扩增及ID 4基因启动子甲基化区的变化。从20名健康志愿者中收集骨髓样品。结果肾阴虚型CAA患者ND 1 -2、ND 4 -6、CYTB基因突变率较高，且ND 1 -2、ND 4 -6、CYTB基因突变率较高。此外，ID 4基因在健康人骨髓中未甲基化，但在部分肾阴虚CAA患者中甲基化（阳性率60%）和肾阳虚型结论基因突变可改变CAA患者呼吸链酶复合物的表达，导致能量代谢障碍，促进造血功能衰竭的生理病理过程。基因突变导致的线粒体呼吸链功能障碍可能是CAA患者造血功能衰竭的重要原因。这种变化与母体遗传和肾阴虚密切相关。最后，这些数据支持了阳虚患者容易治疗疾病，阴虚患者难以治疗疾病的说法。
ObjectiveTo analyze changes in gene amplification in the mitochondrial genome and in the ID4 gene promoter methylation region in patients with chronic aplastic anemia (CAA) suffering from Kidney (Shen) yin deficiency or Kidney yang deficiency.MethodsBone marrow and oral epithelium samples were collected from CAA patients with Kidney yin deficiency or Kidney yang deficiency (20 cases). Bone marrow samples were collected from 20 healthy volunteers. The mitochondrial genome was amplified by polymerase chain reaction (PCR), and PCR products were used for sequencing and analysis.ResultsHigher mutational rates were observed in the ND1–2, ND4–6, and CYTB genes in CAA patients suffering from Kidney yin deficiency. Moreover, the ID4 gene was unmethylated in bone marrow samples from healthy individuals, but was methylated in some CAA patients suffering from Kidney yin deficiency (positive rate, 60%) and Kidney yang deficiency (positive rate, 55%).ConclusionsThese data supported that gene mutations can alter the expression of respiratory chain enzyme complexes in CAA patients, resulting in energy metabolism impairment and promoting the physiological and pathological processes of hematopoietic failure. Functional impairment of the mitochondrial respiration chain induced by gene mutation may be an important reason for hematopoietic failure in patients with CAA. This change is closely related to maternal inheritance and Kidney yin deficiency. Finally, these data supported the assertion that it is easy to treat disease in patients suffering from yang deficiency and difficult to treat disease in patients suffering from yin deficiency.
影响因子：
16.6
作者：
D. Clayton
通讯作者：
D. Clayton
DOI：
10.1073/pnas.77.11.6715
发表时间：
1980-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
GILES, RE;BLANC, H;WALLACE, DC
通讯作者：
WALLACE, DC