LAUSR

Mitochondrial DNA (mtDNA) copy number alterations occur in acute myeloid leukemia (AML). We evaluated regulation and biological significance of mtDNA copy number in pediatric AML patients (n=123) by qRT-PCR, and in-vitro studies. MtDNA copy number was significantly higher (p<0.001) and an independent predictor of aggressive disease (p=0.006), lower event free survival (p=0.033), and overall survival (p=0.007). Expression of TFAM, POLG, POLRMT, MYC and ND3 were significantly upregulated. In cell lines, PGC1A inhibition decreased mtDNA copy number (p=0.032) while MYC inhibition had no effect (p=0.229). PGC1A may contribute to enhanced mtDNA copy number, which predicts disease aggressiveness and inferior survival outcome.