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Clinicopathological Implications of Mitochondrial Genome Alterations in Pediatric Acute Myeloid Leukemia
Min-Gu Kang1,2, Yu-Na Kim1,3, Jun Hyung Lee1
1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea.
Background:
To the best of our knowledge, the association between pediatric AML and mitochondrial aberrations has not been studied. We investigated various mitochondrial aberrations in pediatric AML and evaluated their impact on clinical outcomes.
Methods:
Sequencing, mitochondrial DNA (mtDNA) copy number determination, mtDNA 4,977-bp large deletion assessments, and gene scan analyses were performed on the bone marrow mononuclear cells of 55 pediatric AML patients and on the peripheral blood mononuclear cells of 55 normal controls. Changes in the mitochondrial mass, mitochondrial membrane potential, and intracellular reactive oxygen species (ROS) levels were also examined.
Results:
mtDNA copy numbers were about two-fold higher in pediatric AML cells than in controls (P<0.0001). Furthermore, a close relationship was found between mtDNA copy number tertiles and the risk of pediatric AML. Intracellular ROS levels, mitochondrial mass, and mitochondrial membrane potentials were all elevated in pediatric AML. The frequency of the mtDNA 4,977-bp large deletion was significantly higher (P<0.01) in pediatric AML cells, and pediatric AML patients harboring high amount of mtDNA 4,977-bp deletions showed shorter overall survival and event-free survival rates, albeit without statistical significance.
Conclusions:
The present findings demonstrate an association between mitochondrial genome alterations and the risk of pediatric AML.
Insights
Mitochondrial DNA copy numbers and reactive oxygen species levels are elevated in pediatric acute myeloid leukemia (AML). These mitochondrial changes are associated with an increased risk of pediatric AML.
Area of Science:
- Mitochondrial biology
- Pediatric oncology
- Cancer genomics
Background:
- The link between pediatric acute myeloid leukemia (AML) and mitochondrial abnormalities remains largely unexplored.
- This study investigates mitochondrial aberrations in pediatric AML to understand their clinical implications.
Purpose of the Study:
- To investigate mitochondrial DNA (mtDNA) copy number, large deletions, and other mitochondrial parameters in pediatric AML.
- To evaluate the association between these mitochondrial aberrations and clinical outcomes in pediatric AML patients.
Main Methods:
- Analysis of bone marrow mononuclear cells from 55 pediatric AML patients and 55 controls.
- Assessment of mtDNA copy number, mtDNA 4,977-bp large deletion, mitochondrial mass, membrane potential, and reactive oxygen species (ROS) levels.
Main Results:
- Pediatric AML cells exhibited approximately two-fold higher mtDNA copy numbers compared to controls.
- Elevated intracellular ROS levels, mitochondrial mass, and mitochondrial membrane potential were observed in pediatric AML.
- A higher frequency of the mtDNA 4,977-bp large deletion was found in pediatric AML, correlating with shorter survival rates.
Conclusions:
- Mitochondrial genome alterations are associated with the risk of pediatric AML.
- Findings highlight the potential role of mitochondrial dysfunction in pediatric AML pathogenesis.
