التفاصيل البيبلوغرافية
| العنوان: |
Novel non‐neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia. |
| المؤلفون: |
Järviaho, T., Hurme‐Niiranen, A., Soini, H. K., Niinimäki, R., Möttönen, M., Savolainen, E.‐R., Hinttala, R., Harila‐Saari, A., Uusimaa, J. |
| المصدر: |
Clinical Genetics; Feb2018, Vol. 93 Issue 2, p275-285, 12p, 3 Diagrams, 3 Charts |
| مصطلحات موضوعية: |
LYMPHOBLASTIC leukemia, MITOCHONDRIAL DNA, GENETIC mutation, OXIDATIVE phosphorylation, GLYCOLYSIS |
| مستخلص: |
Mitochondria produce adenosine triphosphate (ATP) for energy requirements via the mitochondrial oxidative phosphorylation (OXPHOS) system. One of the hallmarks of cancer is the energy shift toward glycolysis. Low OXPHOS activity and increased glycolysis are associated with aggressive types of cancer. Mitochondria have their own genome (mitochondrial DNA [mtDNA]) encoding for 13 essential subunits of the OXPHOS enzyme complexes. We studied mtDNA in childhood acute lymphoblastic leukemia (ALL) to detect potential pathogenic mutations in OXPHOS complexes. The whole mtDNA from blood and bone marrow samples at diagnosis and follow‐up from 36 ALL patients were analyzed. Novel or previously described pathogenic mtDNA mutations were identified in 8 out of 36 patients. Six out of these 8 patients had died from ALL. Five out of 36 patients had an identified poor prognosis genetic marker, and 4 of these patients had mtDNA mutations. Missense or nonsense mtDNA mutations were detected in the genes encoding subunits of OXPHOS complexes, as follows: MT‐ND1, MT‐ND2, MT‐ND4L and MT‐ND6 of complex I; MT‐CO3 of complex IV; and MT‐ATP6 and MT‐ATP8 of complex V. We discovered mtDNA mutations in childhood ALL supporting the hypothesis that non‐neutral variants in mtDNA affecting the OXPHOS function may be related to leukemic clones. [ABSTRACT FROM AUTHOR] |
|
Copyright of Clinical Genetics is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
