지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 438 - 446 (9page)
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Background: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired pluripotent hematopoietic stem cell disorder associated with an increase in the number of glycosyl-phosphatidyl inositol (GPI)-deficient blood cells. We investigated PNH clonal proliferation in the three cell lineages—granulocytes, T lymphocytes, and red blood cells (RBCs)—by analyzing PIGA gene mutations and T-cell receptor (TCR) clonality. Methods: Flow cytometry was used on peripheral blood samples from 24 PNH patients to measure the GPI-anchored protein (GPI-AP) deficient fraction in each blood cell lineage. PIGA gene mutations were analyzed in granulocytes and T lymphocytes by Sanger sequencing. A TCR clonality assay was performed in isolated GPI-AP deficient T lymphocytes. Results: The GPI-AP deficient fraction among the three lineages was the highest in granulocytes, followed by RBCs and T lymphocytes. PIGA mutations were detected in both granulocytes and T lymphocytes of 19 patients (79.2%), with a higher mutation burden in granulocytes. The GPI-AP deficient fractions of granulocytes and T lymphocytes correlated moderately (rs=0.519, P=0.049) and strongly (rs=0.696, P=0.006) with PIGA mutation burden, respectively. PIGA mutations were more frequently observed in patients with clonal rearrangements in TCR genes (P=0.015). The PIGA mutation burden of T lymphocytes was higher in patients with clonal TCRB rearrangement. Conclusions: PIGA mutations were present in approximately 80% of PNH patients. PNH clone size varies according to blood cell lineage, and clonal cells may obtain proliferation potential or gain a survival advantage over normal cells.
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참고문헌 (33)
참고문헌 신청
Bessler M / 1994 / Paroxysmal nocturnal haemoglobinuria(PNH)is caused by somatic mutations in the PIG-A gene / EMBO J 13:110~117
Ware RE / 1994 / Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria / Blood 83:2418~2422
Brodsky RA / 1999 / Resistance of paroxysmal nocturnal hemoglobinuria cells to the glycosylphosphatidylinositol-binding toxin aerolysin / Blood 93:1749~1756
Fujita M / 2012 / GPI-anchor remodeling : potential functions of GPI-anchors in intracellular trafficking and membrane dynamics / Biochim Biophys Acta 1821:1050~1058
Kinoshita T / 2008 / Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins : recent progress / J Biochem 144:287~294
Ware RE / 1994 / Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria / Blood 83:2418~2422
Brodsky RA / 1999 / Resistance of paroxysmal nocturnal hemoglobinuria cells to the glycosylphosphatidylinositol-binding toxin aerolysin / Blood 93:1749~1756
Fujita M / 2012 / GPI-anchor remodeling : potential functions of GPI-anchors in intracellular trafficking and membrane dynamics / Biochim Biophys Acta 1821:1050~1058
Kinoshita T / 2008 / Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins : recent progress / J Biochem 144:287~294
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