Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia
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Vujić, DraganaPetrović, Sandra
Lazić, Emilija
Kuzmanović, Miloš
Leskovac, Andreja
Joksić, Ivana
Mićić, Dragan
Jovanović, Ankica
Zečević, Željko
Guć-Šćekić, Marija
Ćirković, Sanja
Joksić, Gordana
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To investigate genetic subtypes of inherited bone marrow failure syndrome Fanconi anemia (FA) in Sebia. FA-D2 subtype was found to be the most frequent genetic subtype among investigated FA patients; specific observations of FA-D2 phenotype are pointed out. Several biological endpoints of FA cells in vitro such as radiation-induced level of lymphocyte micronuclei (radiosensitivity), base line and radiation induced level of the DNA double strand breaks (DSBs), leukocyte apoptosis, and telomere capping function were assessed. The results indicate that all FA-D2 patients display radioresistant in vitro response, which is seen as significantly reduced yield of radiation-induced micronuclei. On the contrary, FA-A patients display radiosensitive in vitro response seen as increased number of radiation-induced micronuclei (MN). A massive elimination of irradiated cells via apoptosis is found in both FA-A and FA-D2 subtypes. In FA-A subtype apoptosis positively relates with the yield of radiati...on-induced MN, whereas in FA-D2 subtype apoptosis relates with a high percentage of cells carrying dysfunctional telomeres. The present results unequivocally demonstrate that cytokinesis-block micronucleus (CBMN) assay and analyses of telomere capping function can be used to distinguish FA-D2 and FA-A complementation groups. Considering all biological endpoints were analyzed, it can be concluded that all FA patients are radiosensitive, regardless of their complementation group. Thus, using CBMN test and telomere capping function analysis can discriminate FA-A from FA-D2 complementation groups, which could be important for assessment the conditioning regimens prior to bone marrow transplantation.
Keywords:
FA-D2 complementation group / Radiosensitivity / DNA double strand breaks / Apoptosis / Telomere functionSource:
Indian Journal of Pediatrics, 2014, 81, 3, 260-265Funding / projects:
- Radiosensitivity of human genome (RS-MESTD-Basic Research (BR or ON)-173046)
DOI: 10.1007/s12098-013-1284-4
ISSN: 0019-5456; 0973-7693
PubMed: 24317781
WoS: 000333260300009
Scopus: 2-s2.0-84898548884
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VinčaTY - JOUR AU - Vujić, Dragana AU - Petrović, Sandra AU - Lazić, Emilija AU - Kuzmanović, Miloš AU - Leskovac, Andreja AU - Joksić, Ivana AU - Mićić, Dragan AU - Jovanović, Ankica AU - Zečević, Željko AU - Guć-Šćekić, Marija AU - Ćirković, Sanja AU - Joksić, Gordana PY - 2014 UR - https://vinar.vin.bg.ac.rs/handle/123456789/5928 AB - To investigate genetic subtypes of inherited bone marrow failure syndrome Fanconi anemia (FA) in Sebia. FA-D2 subtype was found to be the most frequent genetic subtype among investigated FA patients; specific observations of FA-D2 phenotype are pointed out. Several biological endpoints of FA cells in vitro such as radiation-induced level of lymphocyte micronuclei (radiosensitivity), base line and radiation induced level of the DNA double strand breaks (DSBs), leukocyte apoptosis, and telomere capping function were assessed. The results indicate that all FA-D2 patients display radioresistant in vitro response, which is seen as significantly reduced yield of radiation-induced micronuclei. On the contrary, FA-A patients display radiosensitive in vitro response seen as increased number of radiation-induced micronuclei (MN). A massive elimination of irradiated cells via apoptosis is found in both FA-A and FA-D2 subtypes. In FA-A subtype apoptosis positively relates with the yield of radiation-induced MN, whereas in FA-D2 subtype apoptosis relates with a high percentage of cells carrying dysfunctional telomeres. The present results unequivocally demonstrate that cytokinesis-block micronucleus (CBMN) assay and analyses of telomere capping function can be used to distinguish FA-D2 and FA-A complementation groups. Considering all biological endpoints were analyzed, it can be concluded that all FA patients are radiosensitive, regardless of their complementation group. Thus, using CBMN test and telomere capping function analysis can discriminate FA-A from FA-D2 complementation groups, which could be important for assessment the conditioning regimens prior to bone marrow transplantation. T2 - Indian Journal of Pediatrics T1 - Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia VL - 81 IS - 3 SP - 260 EP - 265 DO - 10.1007/s12098-013-1284-4 ER -
@article{ author = "Vujić, Dragana and Petrović, Sandra and Lazić, Emilija and Kuzmanović, Miloš and Leskovac, Andreja and Joksić, Ivana and Mićić, Dragan and Jovanović, Ankica and Zečević, Željko and Guć-Šćekić, Marija and Ćirković, Sanja and Joksić, Gordana", year = "2014", abstract = "To investigate genetic subtypes of inherited bone marrow failure syndrome Fanconi anemia (FA) in Sebia. FA-D2 subtype was found to be the most frequent genetic subtype among investigated FA patients; specific observations of FA-D2 phenotype are pointed out. Several biological endpoints of FA cells in vitro such as radiation-induced level of lymphocyte micronuclei (radiosensitivity), base line and radiation induced level of the DNA double strand breaks (DSBs), leukocyte apoptosis, and telomere capping function were assessed. The results indicate that all FA-D2 patients display radioresistant in vitro response, which is seen as significantly reduced yield of radiation-induced micronuclei. On the contrary, FA-A patients display radiosensitive in vitro response seen as increased number of radiation-induced micronuclei (MN). A massive elimination of irradiated cells via apoptosis is found in both FA-A and FA-D2 subtypes. In FA-A subtype apoptosis positively relates with the yield of radiation-induced MN, whereas in FA-D2 subtype apoptosis relates with a high percentage of cells carrying dysfunctional telomeres. The present results unequivocally demonstrate that cytokinesis-block micronucleus (CBMN) assay and analyses of telomere capping function can be used to distinguish FA-D2 and FA-A complementation groups. Considering all biological endpoints were analyzed, it can be concluded that all FA patients are radiosensitive, regardless of their complementation group. Thus, using CBMN test and telomere capping function analysis can discriminate FA-A from FA-D2 complementation groups, which could be important for assessment the conditioning regimens prior to bone marrow transplantation.", journal = "Indian Journal of Pediatrics", title = "Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia", volume = "81", number = "3", pages = "260-265", doi = "10.1007/s12098-013-1284-4" }
Vujić, D., Petrović, S., Lazić, E., Kuzmanović, M., Leskovac, A., Joksić, I., Mićić, D., Jovanović, A., Zečević, Ž., Guć-Šćekić, M., Ćirković, S.,& Joksić, G.. (2014). Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia. in Indian Journal of Pediatrics, 81(3), 260-265. https://doi.org/10.1007/s12098-013-1284-4
Vujić D, Petrović S, Lazić E, Kuzmanović M, Leskovac A, Joksić I, Mićić D, Jovanović A, Zečević Ž, Guć-Šćekić M, Ćirković S, Joksić G. Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia. in Indian Journal of Pediatrics. 2014;81(3):260-265. doi:10.1007/s12098-013-1284-4 .
Vujić, Dragana, Petrović, Sandra, Lazić, Emilija, Kuzmanović, Miloš, Leskovac, Andreja, Joksić, Ivana, Mićić, Dragan, Jovanović, Ankica, Zečević, Željko, Guć-Šćekić, Marija, Ćirković, Sanja, Joksić, Gordana, "Prevalence of FA-D2 Rare Complementation Group of Fanconi Anemia in Serbia" in Indian Journal of Pediatrics, 81, no. 3 (2014):260-265, https://doi.org/10.1007/s12098-013-1284-4 . .