Cui Xing, Wang Jing-Yi, Liu Kui, Cui Si-Yuan, Zhang Jie, Luo Ya-Qin, Wang Xin
Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, 250011, China.
Postdoctoral Research Station, Shandong University, Jinan, 250012, China.
Chin J Integr Med. 2016 Jun;22(6):412-9. doi: 10.1007/s11655-014-1813-7. Epub 2015 Apr 29.
To 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.
Bone 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.
Higher 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%).
These 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.
分析慢性再生障碍性贫血（CAA）肾阴虚或肾阳虚患者线粒体基因组基因扩增及ID4基因启动子甲基化区域的变化。
收集20例肾阴虚或肾阳虚的CAA患者的骨髓和口腔上皮细胞样本。收集20名健康志愿者的骨髓样本。通过聚合酶链反应（PCR）扩增线粒体基因组，PCR产物用于测序和分析。
肾阴虚的CAA患者中，ND1 - 2、ND4 - 6和CYTB基因的突变率较高。此外，ID4基因在健康个体的骨髓样本中未甲基化，但在一些肾阴虚（阳性率60%）和肾阳虚（阳性率55%）的CAA患者中甲基化。
这些数据支持基因突变可改变CAA患者呼吸链酶复合物的表达，导致能量代谢受损，促进造血衰竭的生理和病理过程。基因突变引起的线粒体呼吸链功能障碍可能是CAA患者造血衰竭的重要原因。这种变化与母系遗传和肾阴虚密切相关。最后，这些数据支持阳虚易治、阴虚难治的观点。
