Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children andrepresents approximately 25% of cancer diagnoses among those younger than 15 years of age. Aim and
Objectives:This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) asa potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Basedon mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATPsynthase subunit 6 gene were amplified and sequenced.
Results: The sequencing revealed thirty-one mutationsat 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotidepolymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females.Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects;the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in controlsamples.
Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients.Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acutelymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acutelyphoblastic leukemia (ALL) in Saudi patients based on molecular events.