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

Xing Cui; Jing-yi Wang; Kui Liu; Si-yuan Cui; Jie Zhang; Ya-qin Luo; Xin Wang

doi:10.1007/s11655-014-1813-7

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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

OriginalPaper | Updated：2021-08-27

- 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
- 中国结合医学杂志（英文版） 2016年22卷第6期页码：412-419
- Affiliations：
  
  1. Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine,Jinan,China
  2. Postdoctoral Research Station, Shandong University,Jinan,China
  3. Department of Hematology, Shangdong Province Hospital of Shandong University,Jinan,China
- Author bio：
- Funds：
  
  Supported by the National Natural Science Foundation of China (No. 81202839/H2902), the Class General Financial Grant from the China Postdoctoral Science Foundation (No. 2012M521356), the Natural Science Foundation of Shandong Province (No. ZR2012HQ023), and the Shandong Province Technology Development Program of Traditional Chinese Medicine (No. 2011-063)
- DOI：10.1007/s11655-014-1813-7
  中图分类号：
- 纸质出版日期：2016，
  
  网络出版日期：2015-4-29，
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Cui, X., Wang, Jy., Liu, K. et al. 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., Chin. J. Integr. Med. 22, 412–419 (2016). https://doi.org/10.1007/s11655-014-1813-7

Xing Cui, Jing-yi Wang, Kui Liu, et al. 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[J]. Chinese Journal of Integrative Medicine, 2016,22(6):412-419.
Cui, X., Wang, Jy., Liu, K. et al. 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., Chin. J. Integr. Med. 22, 412–419 (2016). https://doi.org/10.1007/s11655-014-1813-7 DOI：

Xing Cui, Jing-yi Wang, Kui Liu, et al. 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[J]. Chinese Journal of Integrative Medicine, 2016,22(6):412-419. DOI： 10.1007/s11655-014-1813-7.

摘要

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.

Abstract

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

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.

关键词

chronic aplastic anemiakidneybone marrowmitochondrial DNAmaternal inheritanceID4methylation

Keywords

chronic aplastic anemiakidneybone marrowmitochondrial DNAmaternal inheritanceID4methylation

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