Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti
Molecular markers of impaired coagulation, inflammation, apoptosis, formation and bone remodeling processes in Legg-Calve-Perthes disease
Апстракт
Leg-Kalve-Pertesova (LKP) bolest je idiopatska avaskularna osteonekroza epifize femura. Etiologija ove bolesti je nepoznata. Uprkos 100 godina istraživanja mehanizma njene patofiziologije i detaljnog opisivanja kliniĉkih i radioloških karakteristika, LKP bolest i dalje predstavlja jednu od najkontroverznijih bolesti u oblasti pedijatrijske ortopedije. Smatra se da je ova bolest multifaktorijalna, izazvana kombinacijom sredinskih i genetiĉkih faktora, ali se o genetiĉkim faktorima koji doprinose njenom razvoju vrlo malo zna. Glavni cilj ovog istraživanja je bio da se analiziraju molekularni markeri procesa koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva u LKP bolesti. Rezultati ovog istraživanja mogu doprineti identifikovanju prediktivnih genetiĉkih i molekularnih markera, što bi pomoglo u postavljanju dijagnoze i razvoju novih terapijskih pristupa, koji bi omogućili skraćenje perioda tokom kojeg je glava femura podložna deformitetu. Koagulacioni faktori su... bili prvi genetiĉki faktori za koje se pretpostavilo da bi mogli doprineti razvoju LKP bolesti, meĊutim dobijeni su kontroverzni rezultati. Zbog toga je jedan od ciljeva ovog istraživanja bio analiza asocijacije varijanti gena ĉiji produkti uĉestvuju u procesu koagulacije: Faktor V G1691A (Leiden mutacija) (rs6025), Faktor II G20210A (rs1799963), MTHFR C677T (rs1801133) i PAI-1 4G/5G (rs1799889) sa pojavom LKP bolesti kod pacijenata iz Srbije. Navedene genske varijante su analizirane PCR-RFLP metodom i direktnim sekvenciranjem PCR fragmenta. PoreĊenjem uĉestalosti genotipova i alela navedenih genskih varijanti izmeĊu grupe pacijenata i kontrolne grupe nije pronaĊena statistiĉki znaĉajna razlika...
Legg-Calve-Perthes (LCP) disease is the idiopathic avascular osteonecrosis of the hip in children, with an unknown etiology. Despite nearly 100 years of detailed characterization of its clinical and radiological features, as well as a research devoted to the pathophysiology of this disease, LCP disease still remains one of the most controversial conditions in pediatric orthopedics. The prevailing view is that LCP disease is a multifactorial, caused by a combination of environmental and genetic factors, but the contribution of genetic factors remains largely unknown. The main objective of this study was to analyse the molecular markers of coagulation, inflammation, and apoptosis processes, as well as formation and bone remodeling in LCP disease. The obtained knowledge could contribute to the identification of the predictive genetic and molecular markers that would help in the diagnosis and development of new therapeutic approaches that would shorten the period during which the femoral h...ead is susceptible to deformation. Coagulation factors were the first genetic factors suspected to have a role in the pathogenesis of this disease, but studies have shown inconsistent results. For this reason, one of the aims of this study was to analyse the association of variants of genes involved in coagulation: FV G1691A (Leiden mutation) (rs6025), FII G20210A (rs1799963), MTHFR C677T (rs1801133) and PAI-1 4G/5G (rs1799889), with LCP disease, in a patient group from Serbia. These genetic variants were determined by PCR-RFLP and direct sequencing methods. When genotype and allele frequencies of these genetic variants were compared among patient and control groups, no significant differences were observed...
Кључне речи:
varijante gena / tranzijentna transfekcija / remodelovanje koštanog tkiva / mezenhimske matiĉne ćelije / Leg-Kalve-Pertesova bolest / koagulacioni faktori / inflamacija / apoptoza / transient transfection / mesenchymal stem cells / Legg-Calve-Perthes disease / inflammation / gene variants / coagulation factors / bone remodeling / apoptosisИзвор:
2015Издавач:
- Univerzitet u Beogradu, Biološki fakultet
Финансирање / пројекти:
- Ретке болести: молекуларна патофизиологија, дијагностички и терапијски модалитети и социјални, етички и правни аспекти (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
URI
http://eteze.bg.ac.rs/application/showtheses?thesesId=2710https://nardus.mpn.gov.rs/handle/123456789/5078
https://fedorabg.bg.ac.rs/fedora/get/o:10844/bdef:Content/download
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1024961970
https://imagine.imgge.bg.ac.rs/handle/123456789/40
Колекције
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - THES AU - Srzentić, Sanja PY - 2015 UR - http://eteze.bg.ac.rs/application/showtheses?thesesId=2710 UR - https://nardus.mpn.gov.rs/handle/123456789/5078 UR - https://fedorabg.bg.ac.rs/fedora/get/o:10844/bdef:Content/download UR - http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1024961970 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/40 AB - Leg-Kalve-Pertesova (LKP) bolest je idiopatska avaskularna osteonekroza epifize femura. Etiologija ove bolesti je nepoznata. Uprkos 100 godina istraživanja mehanizma njene patofiziologije i detaljnog opisivanja kliniĉkih i radioloških karakteristika, LKP bolest i dalje predstavlja jednu od najkontroverznijih bolesti u oblasti pedijatrijske ortopedije. Smatra se da je ova bolest multifaktorijalna, izazvana kombinacijom sredinskih i genetiĉkih faktora, ali se o genetiĉkim faktorima koji doprinose njenom razvoju vrlo malo zna. Glavni cilj ovog istraživanja je bio da se analiziraju molekularni markeri procesa koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva u LKP bolesti. Rezultati ovog istraživanja mogu doprineti identifikovanju prediktivnih genetiĉkih i molekularnih markera, što bi pomoglo u postavljanju dijagnoze i razvoju novih terapijskih pristupa, koji bi omogućili skraćenje perioda tokom kojeg je glava femura podložna deformitetu. Koagulacioni faktori su bili prvi genetiĉki faktori za koje se pretpostavilo da bi mogli doprineti razvoju LKP bolesti, meĊutim dobijeni su kontroverzni rezultati. Zbog toga je jedan od ciljeva ovog istraživanja bio analiza asocijacije varijanti gena ĉiji produkti uĉestvuju u procesu koagulacije: Faktor V G1691A (Leiden mutacija) (rs6025), Faktor II G20210A (rs1799963), MTHFR C677T (rs1801133) i PAI-1 4G/5G (rs1799889) sa pojavom LKP bolesti kod pacijenata iz Srbije. Navedene genske varijante su analizirane PCR-RFLP metodom i direktnim sekvenciranjem PCR fragmenta. PoreĊenjem uĉestalosti genotipova i alela navedenih genskih varijanti izmeĊu grupe pacijenata i kontrolne grupe nije pronaĊena statistiĉki znaĉajna razlika... AB - Legg-Calve-Perthes (LCP) disease is the idiopathic avascular osteonecrosis of the hip in children, with an unknown etiology. Despite nearly 100 years of detailed characterization of its clinical and radiological features, as well as a research devoted to the pathophysiology of this disease, LCP disease still remains one of the most controversial conditions in pediatric orthopedics. The prevailing view is that LCP disease is a multifactorial, caused by a combination of environmental and genetic factors, but the contribution of genetic factors remains largely unknown. The main objective of this study was to analyse the molecular markers of coagulation, inflammation, and apoptosis processes, as well as formation and bone remodeling in LCP disease. The obtained knowledge could contribute to the identification of the predictive genetic and molecular markers that would help in the diagnosis and development of new therapeutic approaches that would shorten the period during which the femoral head is susceptible to deformation. Coagulation factors were the first genetic factors suspected to have a role in the pathogenesis of this disease, but studies have shown inconsistent results. For this reason, one of the aims of this study was to analyse the association of variants of genes involved in coagulation: FV G1691A (Leiden mutation) (rs6025), FII G20210A (rs1799963), MTHFR C677T (rs1801133) and PAI-1 4G/5G (rs1799889), with LCP disease, in a patient group from Serbia. These genetic variants were determined by PCR-RFLP and direct sequencing methods. When genotype and allele frequencies of these genetic variants were compared among patient and control groups, no significant differences were observed... PB - Univerzitet u Beogradu, Biološki fakultet T1 - Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti T1 - Molecular markers of impaired coagulation, inflammation, apoptosis, formation and bone remodeling processes in Legg-Calve-Perthes disease UR - https://hdl.handle.net/21.15107/rcub_nardus_5078 ER -
@phdthesis{ author = "Srzentić, Sanja", year = "2015", abstract = "Leg-Kalve-Pertesova (LKP) bolest je idiopatska avaskularna osteonekroza epifize femura. Etiologija ove bolesti je nepoznata. Uprkos 100 godina istraživanja mehanizma njene patofiziologije i detaljnog opisivanja kliniĉkih i radioloških karakteristika, LKP bolest i dalje predstavlja jednu od najkontroverznijih bolesti u oblasti pedijatrijske ortopedije. Smatra se da je ova bolest multifaktorijalna, izazvana kombinacijom sredinskih i genetiĉkih faktora, ali se o genetiĉkim faktorima koji doprinose njenom razvoju vrlo malo zna. Glavni cilj ovog istraživanja je bio da se analiziraju molekularni markeri procesa koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva u LKP bolesti. Rezultati ovog istraživanja mogu doprineti identifikovanju prediktivnih genetiĉkih i molekularnih markera, što bi pomoglo u postavljanju dijagnoze i razvoju novih terapijskih pristupa, koji bi omogućili skraćenje perioda tokom kojeg je glava femura podložna deformitetu. Koagulacioni faktori su bili prvi genetiĉki faktori za koje se pretpostavilo da bi mogli doprineti razvoju LKP bolesti, meĊutim dobijeni su kontroverzni rezultati. Zbog toga je jedan od ciljeva ovog istraživanja bio analiza asocijacije varijanti gena ĉiji produkti uĉestvuju u procesu koagulacije: Faktor V G1691A (Leiden mutacija) (rs6025), Faktor II G20210A (rs1799963), MTHFR C677T (rs1801133) i PAI-1 4G/5G (rs1799889) sa pojavom LKP bolesti kod pacijenata iz Srbije. Navedene genske varijante su analizirane PCR-RFLP metodom i direktnim sekvenciranjem PCR fragmenta. PoreĊenjem uĉestalosti genotipova i alela navedenih genskih varijanti izmeĊu grupe pacijenata i kontrolne grupe nije pronaĊena statistiĉki znaĉajna razlika..., Legg-Calve-Perthes (LCP) disease is the idiopathic avascular osteonecrosis of the hip in children, with an unknown etiology. Despite nearly 100 years of detailed characterization of its clinical and radiological features, as well as a research devoted to the pathophysiology of this disease, LCP disease still remains one of the most controversial conditions in pediatric orthopedics. The prevailing view is that LCP disease is a multifactorial, caused by a combination of environmental and genetic factors, but the contribution of genetic factors remains largely unknown. The main objective of this study was to analyse the molecular markers of coagulation, inflammation, and apoptosis processes, as well as formation and bone remodeling in LCP disease. The obtained knowledge could contribute to the identification of the predictive genetic and molecular markers that would help in the diagnosis and development of new therapeutic approaches that would shorten the period during which the femoral head is susceptible to deformation. Coagulation factors were the first genetic factors suspected to have a role in the pathogenesis of this disease, but studies have shown inconsistent results. For this reason, one of the aims of this study was to analyse the association of variants of genes involved in coagulation: FV G1691A (Leiden mutation) (rs6025), FII G20210A (rs1799963), MTHFR C677T (rs1801133) and PAI-1 4G/5G (rs1799889), with LCP disease, in a patient group from Serbia. These genetic variants were determined by PCR-RFLP and direct sequencing methods. When genotype and allele frequencies of these genetic variants were compared among patient and control groups, no significant differences were observed...", publisher = "Univerzitet u Beogradu, Biološki fakultet", title = "Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti, Molecular markers of impaired coagulation, inflammation, apoptosis, formation and bone remodeling processes in Legg-Calve-Perthes disease", url = "https://hdl.handle.net/21.15107/rcub_nardus_5078" }
Srzentić, S.. (2015). Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti. Univerzitet u Beogradu, Biološki fakultet.. https://hdl.handle.net/21.15107/rcub_nardus_5078
Srzentić S. Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti. 2015;. https://hdl.handle.net/21.15107/rcub_nardus_5078 .
Srzentić, Sanja, "Molekularni markeri poremećaja koagulacije, inflamacije, apoptoze, formiranja i remodelovanja koštanog tkiva kod Leg-Kalve-Pertesove bolesti" (2015), https://hdl.handle.net/21.15107/rcub_nardus_5078 .