Department of Biotechnology, Mizoram University, Aizawl, Mizoram, India.
Mizoram State Cancer Institute, Zemabawk, Aizawl, Mizoram, India.
Mitochondrial DNA A DNA Mapp Seq Anal. 2020 Aug;31(6):245-249. doi: 10.1080/24701394.2020.1786545. Epub 2020 Jul 1.
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. 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.
白血病是儿童最常见的恶性肿瘤，在其诊断和预后方面已经开展了大量具有前景的研究。然而，大多数研究都集中在核改变上，而线粒体突变的研究还不够充分。虽然在成人白血病中有关于线粒体突变的研究，但这并不代表儿童恶性肿瘤的情况相同。这是首次从印度东北部一个内婚部落人群中报告儿童白血病病例的 mtDNA 突变模式的科学研究。涉及复合物 V 的突变与非同义变异相比，更易发生改变。非编码区（D-环-g.152T>C）和编码区（MT-ND2，g.4824A>G，p.T119A）的 mtDNA 变异显示出母系遗传，这可能揭示了一种遗传易感性，但其外显率较低。D-环变异（g.152T>C）可以作为诊断标记，这与之前的报告一致，但与仅存在于 AML-M3 亚型的情况相反，而是在髓系恶性肿瘤中发现。
