Evaluación molecular de la longitud telométrica y de los genes que participan en su regulación en leucemia linfocítica crónica
Chronic lymphocytic leukemia (CLL) is one of the most common types of adult leukemia in Western world, characterized by a highly variable clinical course. Telomeres are specialized protective structures at the end of eukaryotic chromosomes. The study included 134 CLL patients. Telomere length (TL),...
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| Formato: | Tesis doctoral acceptedVersion |
| Lenguaje: | Español |
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Facultad de Farmacia y Bioquímica
2016
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| Acceso en línea: | http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=posgraafa&cl=CL1&d=HWA_1413 http://repositoriouba.sisbi.uba.ar/gsdl/collect/posgraafa/index/assoc/HWA_1413.dir/1413.PDF |
| Aporte de: |
| Sumario: | Chronic lymphocytic leukemia (CLL) is one of the most common types of adult leukemia in Western world, characterized by a highly variable clinical course. Telomeres are specialized protective structures at the end of eukaryotic chromosomes. The study included 134 CLL patients. Telomere length (TL), IGHV mutational status and the expression of hTR, hTERT, NHP2, DKC1, NOP10 and GAR1 were analyzed. Results were correlated with prognostic factors of the disease. A significant telomere shortening in CLL patients compared to the control group (p=0.0001) was found. Cases with high risk genetic alterations and those with high number of abnormalities also showed telomere reduction, which was associated to short treatment free survival. Different distribution of IGHV genes compared to other geographic regions and TL reduction in patients with unmutated IGHV (p=0.017) were observed. Gene expression analysis showed a global deregulation of all genes and a positive correlation among GAR1, NHP2 y NOP10 (p<0.0001). Our study supports previous findings in hTERT expression and providesfor the first time new information about the remaining genes in CLL, contributing to the biological characterization of the disease as well as to the understanding of the pathogenic mechanisms involved in its development. |
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