Pediatric leukemia could be driven predominantly by non-synonymous variants in mitochondrial complex V in Mizo population from Northeast India

Abstract

Leukemia is the most common childhood malignancy and studies had been carried out with promising revelations in its diagnosis and prognosis. However, majority of the studies are focused on nuclear alterations, while mitochondrial mutations are not well studied. Although there are studies of mitochondrial mutations in the adult leukemias, it does not represent the same for childhood malignancy. This is the first scientific report on the mtDNA mutational pattern of pediatric leukemic cases from a endogamous tribal population in Northeast India. ATP6 involved in the Complex V was found to be more altered with respect to the Non-synonymous variants. mtDNA variations in the non-coding region (D-Loop – g.152 T>C) and in the coding region (MT-ND2, g.4824 A>G, p.T119A) showed a maternal inheritance which could reveal a genetic predisposition with lower penetrance. D-Loop variant (g.152 T>C) could be a diagnostic marker in accordance with previous report but is in contrast to pertaining only in AML – M3 subtype rather was found across in myeloid malignancies.

Keywords:

• Mt-DNA
• complex V
• ATP6
• D-loop
• pediatric leukemia
• tribal population

Acknowledgements

The authors like to acknowledge the Department of Biotechnology, New Delhi, India for the Advanced Level State Biotech Hub (BT/04/NE/2009) and Bioinformatics Infrastructure Facility (BTIsNeT), Mizoram University for sample processing and analysis of the data. The sequencing was done at CoTeRI, National Institute of Biomedical Genomics (NIBMG) Kalyani, West Bengal, India.

Disclosure statement

No potential conflict of interest was reported by the author(s).