Novel Mutations in the Displacement Loop of Mitochondrial DNA are Associated with Acute Lymphoblastic Leukemia: A Genetic Sequencing Study

Yacoub, Haitham Ahmed; Mahmoud, Wael Mahmoud; El-Baz, Hatim Alaa El-Din; Eid, Ola Mohamed; ELfayoumi, Refaat Ibrahim; Elhamidy, Salem Mohamed; Mahmoud, Maged M.

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저자정보: Yacoub, Haitham Ahmed (Department Cell Biology, Genetic Engineering and Biotechnology Division, National Research Center) Mahmoud, Wael Mahmoud (Department Human Cytogenetics, Human Genetics & Genome Research Division, National Research Center) El-Baz, Hatim Alaa El-Din (Department Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University) Eid, Ola Mohamed (Department Human Cytogenetics, Human Genetics & Genome Research Division, National Research Center) ELfayoumi, Refaat Ibrahim (Department Medical Laboratories Technology, Faculty of Applied Medical Sciences, King Abdulaziz University) Elhamidy, Salem Mohamed (Department Biological Sciences, Faculty of Sciences, King Abdulaziz University) Mahmoud, Maged M. (King Fahd Medical Research Center, King Abdulaziz University)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제15권 제21호

발행연도: 2014.1

수록면: 9,283 - 9,289 (7page)

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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. Materials and 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.

#mtDNA #Acute lymphoblastic leukemia #D-loop #mutations #genetic sequencing

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Yacoub, Haitham Ahmed

소속기관 Cell Biology Department, Genetic Engineering and Biotechnology Division, National Research Center