ADAMTS-13 gene expression in antiphospholipid syndrome
OBJECTIVE: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and fetal mortality. Thrombotic microangiopathy (TMA) is an important histological finding in catastrophic APS (CAPS) and in APS patients with nephropathy. Analysis of familial thrombotic throm...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2011-08-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-48378 |
| _version_ | 1828018407170113536 |
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| author | Veysel Sabri Hançer Reyhan Diz Küçükkaya Ayşegül Topal Sarıkaya |
| author_facet | Veysel Sabri Hançer Reyhan Diz Küçükkaya Ayşegül Topal Sarıkaya |
| author_sort | Veysel Sabri Hançer |
| collection | DOAJ |
| description | OBJECTIVE: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and fetal mortality. Thrombotic microangiopathy (TMA) is an important histological finding in catastrophic APS (CAPS) and in APS patients with nephropathy. Analysis of familial thrombotic thrombocytopenic purpura patients showed that there are mutations in the ADAMTS-13 gene that lead to functional defects in the ADAMTS-13 enzyme. The aim of this study was to investigate the prevalence of the aforementioned mutations in APS, as well as to evaluate the level and activity of the ADAMTS-13 enzyme in patients with APS. METHODS: C365del, Q449stop codon, P475S, and C508Y mutations were analyzed in APS patients. Transcriptions were analyzed using real-time PCR, and the level and activity of ADAMTS-13 were analyzed via fluorogenic assay. RESULTS: None of the mutations tested were present in the patient or control groups. The level of ADAMTS-13 mRNA in the patient group was 50% lower than that in the control group. Although a significant difference in ADAMTS-13 activity was not observed between the patient and control groups, a significant association was observed with the level of ADAMTS-13 (p<0.0001). CONCLUSION: The level and activity of ADAMTS-13 were not associated with thrombotic complications, thrombocytopenia, or pregnancy complications in the patients with APS. |
| first_indexed | 2024-04-10T11:04:29Z |
| format | Article |
| id | doaj.art-687f0250ccd14034a16c39529a5389e6 |
| institution | Directory Open Access Journal |
| issn | 1308-5263 |
| language | English |
| last_indexed | 2024-04-10T11:04:29Z |
| publishDate | 2011-08-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-687f0250ccd14034a16c39529a5389e62023-02-15T16:19:31ZengGalenos Publishing HouseTurkish Journal of Hematology1308-52632011-08-0128321321810.5152/tjh.2011.56TJH-48378ADAMTS-13 gene expression in antiphospholipid syndromeVeysel Sabri Hançer0Reyhan Diz Küçükkaya1Ayşegül Topal Sarıkaya2Department Of Medical Biology And Genetics, Faculty Of Medicine, İstanbul Bilim University, İstanbul, TurkeyDepartment Of Internal Medicine, Division Of Hematology, Faculty Of Medicine, İstanbul Bilim University, İstanbul, TurkeyDepartment Of Molecular Biology And Genetics, Faculty Of Science, İstanbul University, İstanbul, TurkeyOBJECTIVE: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and fetal mortality. Thrombotic microangiopathy (TMA) is an important histological finding in catastrophic APS (CAPS) and in APS patients with nephropathy. Analysis of familial thrombotic thrombocytopenic purpura patients showed that there are mutations in the ADAMTS-13 gene that lead to functional defects in the ADAMTS-13 enzyme. The aim of this study was to investigate the prevalence of the aforementioned mutations in APS, as well as to evaluate the level and activity of the ADAMTS-13 enzyme in patients with APS. METHODS: C365del, Q449stop codon, P475S, and C508Y mutations were analyzed in APS patients. Transcriptions were analyzed using real-time PCR, and the level and activity of ADAMTS-13 were analyzed via fluorogenic assay. RESULTS: None of the mutations tested were present in the patient or control groups. The level of ADAMTS-13 mRNA in the patient group was 50% lower than that in the control group. Although a significant difference in ADAMTS-13 activity was not observed between the patient and control groups, a significant association was observed with the level of ADAMTS-13 (p<0.0001). CONCLUSION: The level and activity of ADAMTS-13 were not associated with thrombotic complications, thrombocytopenia, or pregnancy complications in the patients with APS.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-48378antiphospholipid syndromeadamts-13gene expression |
| spellingShingle | Veysel Sabri Hançer Reyhan Diz Küçükkaya Ayşegül Topal Sarıkaya ADAMTS-13 gene expression in antiphospholipid syndrome Turkish Journal of Hematology antiphospholipid syndrome adamts-13 gene expression |
| title | ADAMTS-13 gene expression in antiphospholipid syndrome |
| title_full | ADAMTS-13 gene expression in antiphospholipid syndrome |
| title_fullStr | ADAMTS-13 gene expression in antiphospholipid syndrome |
| title_full_unstemmed | ADAMTS-13 gene expression in antiphospholipid syndrome |
| title_short | ADAMTS-13 gene expression in antiphospholipid syndrome |
| title_sort | adamts 13 gene expression in antiphospholipid syndrome |
| topic | antiphospholipid syndrome adamts-13 gene expression |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-48378 |
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