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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

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Abstract

Objective

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.

Methods

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.

Results

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%).

Conclusions

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.

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Authors and Affiliations

  1. Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, 250011, China

    Xing Cui  (崔 兴), Jing-yi Wang  (王敬毅), Kui Liu  (刘 奎), Si-yuan Cui  (崔思远), Jie Zhang  (张 杰) & Ya-qin Luo  (罗雅琴)

  2. Postdoctoral Research Station, Shandong University, Jinan, 250012, China

    Xing Cui  (崔 兴)

  3. Department of Hematology, Shangdong Province Hospital of Shandong University, Jinan, 250021, China

    Xin Wang  (王 欣)

Authors
  1. Xing Cui  (崔 兴)
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  2. Jing-yi Wang  (王敬毅)
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  3. Kui Liu  (刘 奎)
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  4. Si-yuan Cui  (崔思远)
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  5. Jie Zhang  (张 杰)
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  6. Ya-qin Luo  (罗雅琴)
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  7. Xin Wang  (王 欣)
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Corresponding author

Correspondence to Xing Cui  (崔 兴).

Additional information

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)

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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

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  • DOI: https://doi.org/10.1007/s11655-014-1813-7

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