title: Novel mutations in the displacement loop of mitochondrial DNA are associated with acute lymphoblastic leukemia: a genetic sequencing study.
abstract: BACKGROUND
  Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age.
  
  
  METHODS
  This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced.
  
  
  RESULTS
  This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed.
  
  
  CONCLUSIONS
  Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.
authors.affiliation: Department Cell Biology, Genetic Engineering and Biotechnology Division, National Research Center, Cairo, Egypt E-mail : haithamyacoub46@gmail.com.
authors.forename: Haitham Ahmed
authors.initials: HA
authors.lastname: Yacoub
authors.forename: Wael Mahmoud
authors.initials: WM
authors.lastname: Mahmoud
authors.forename: Hatim Alaa El-Din
authors.initials: HA
authors.lastname: El-Baz
authors.forename: Ola Mohamed
authors.initials: OM
authors.lastname: Eid
authors.forename: Refaat Ibrahim
authors.initials: RI
authors.lastname: ELfayoumi
authors.forename: Salem Mohamed
authors.initials: SM
authors.lastname: Elhamidy
authors.forename: Maged M
authors.initials: MM
authors.lastname: Mahmoud
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D004272:DNA, Mitochondrial