Abstract:

BACKGROUND: Several laboratories have reported unexpectedly large number of mitochondrial mutations in leukemia. But the direct relationship between mitochondrial mutations and chronic aplastic anemia (CAA) has not studied yet.
OBJECTIVE: To study the mitochondrial mutations of CAA suffered from kidney yin deficiency and kidney yang deficiency, and to investigate the nature of maternal genetic: the relationship between mitochondrial and the occurrence and development of CAA suffered from kidney yin deficiency in order to further study the pathogenesis of CAA.
METHODS: The bone marrow and the oral epithelium were obtained from 10 patients with CAA suffered from kidney yin deficiency and 5 patients with CAA suffered from kidney yang deficiency. DNA was extracted and underwent the entire sequencing of the mitochondrial DNA and compared the mitochondrial genome.
RESULTS AND CONCLUSION: The entire sequencing of mitochondrial DNA in CAA suffer from kidney yin deficiency showed that the mutations were occurrence in the areas that closely related with mitochondrial oxidative respiratory chain, it included the reduced nicotinamide adenine dinucleotide dehydrogenase 1-2 and 4-6 and cytochrome B gene. However, the mitochondrial mutations in CAA suffered from kidney yang deficiency were not obvious. We are led to conclude that mitochondrial gene mutation can change the expression of respiratory chain enzyme complex in CAA patients, which results in energy metabolism impairment may participate in the physiological and pathology processes of hematopoietic failure. Functional impairment of mitochondrial respiration chain induced by gene mutation may be an important reason of hematopoietic failure in CAA. And this change is closely related to maternal inheritance and kidney yin deficiency.