Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder.

نویسندگان

  • M Cazzola
  • P Cerani
  • A Rovati
  • A Iannone
  • G Claudiani
  • G Bergamaschi
چکیده

1. Lai JL, Preudhomme C, Zandecki M, Flactif M, Vanrumbeke M, Lepelley P, Wattel E, Fenaux P: Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of p53 mutation. Leukemia 9:370, 1995 2. Fenaux P, Jonveaux P, Quiquandon I, Lai JL, Pignon JM, LoucheuxLefebvre MH, Bauters F, Berger R, Kerckaert JP: p53 gene mutations in acute myeloid leukemia with 17p monosomy. Blood 78:1652, 1991 3. Soenen V, Preudhomme C, Rournier C, Daudignon A, Lai JL, Fenaux P: 17p deletion in acute myeloid leukemia with myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. Blood 91:1008, 1998 4. Zhu YM, Bradbury D, Russell N: Expression of different conformations of p53 in the blast cells of acute myeloblastic leukaemia is related to in vitro growth characteristics. Br J Cancer 68:851, 1993 5. Zhang W, Hu G, Estey E, Hester J, Deisseroth A: Altered conformation of the p53 protein in myeloid leukemia cells and mitogen-stimulated normal blood cells. Oncogene 7:1645, 1992 6. Bueso-Ramos CE, Yang Y, deLeon E, McCowan P, Stass SA, Albitar M: The human MDM-2 oncogene is overexpressed in leukemias. Blood 82:2617, 1993 7. Watanabe T, Ichikawa A, Saito H, Hotta T: Overexpression of the MDM2 oncogene in leukemia and lymphoma. Leuk Lymphoma 21:391, 1996 8. Seliger B, Papadileris S, Vogel D, Hess G, Brendel C, Storkel S, Ortel J, Kolbe K, Huber C, Huhn D, NeubauerA:Analysis of the p53 and MDM-2 gene in acute myeloid leukemia. Eur J Haematol 57:230, 1996 9. Kuerbitz SJ, Plunkett BS, Walsh WV, Kastan MB: Wild-type p53 is a cell cycle checkpoint determinant following irradiation. Proc Natl Acad Sci USA 89:7491, 1992 10. Pietenpol JA, Tokino T, Thiagalingam S, El-Deiry WS, Kinzler KW, Vogelstein B: Sequence-specific transcriptional activation is essential for growth suppression by p53. Proc Natl Acad Sci USA 91:1998, 1994 11. Crook T, Marston NJ, Sara EA, Vousden KH: Transcriptional activation by p53 correlates with suppression of growth but not transformation. Cell 79:817, 1994 12. Yang GS, Minden MD, McCulloch EA: Influence of schedule on regulated sensitivity of AML blasts to cytosine arabinoside. Leukemia 7:1012, 1993 13. Funk WD, Pak DT, Karas RH, Wright WE, Shay JW: A transcriptionally active DNA-binding site for human p53 protein complexes. Mol Cell Biol 12:2866, 1992 14. Di Leonardo A, Linke SP, Clarkin K, Wahl GM: DNA damage triggers a prolonged p53-dependent G1 arrest and long-term induction of Cip1 in normal human fibroblasts. Genes Dev 8:2540, 1994 15. El-Deiry WS, Harper JW, O’Connor PM, Velculescu VE, Canman CE, Jackman J, Pietenpol JA, Burrell M, Hill DE, Wang Y, Wiman KG, Mercer WE, Kastan MB, Kohn KW, Elledge SJ, Kinzler KW, Vogelstein B: WAF1/CIP1 is induced in p53-mediated G1 arrest and apoptosis. Cancer Res 54:1169, 1994 16. Dulic V, Kaufmann WK, Wilson SJ, Tlsty TD, Lees E, Harper JW, Elledge SJ, Reed SI: p53-dependent inhibition of cyclin-dependent kinase activities in human fibroblasts during radiation-induced G1 arrest. Cell 76:1013, 1994 17. Slebos RJ, Lee MH, Plunkett BS, Kessis TD, Williams BO, Jacks T, Hedrick L, Kastan MB, Cho KR: p53-dependent G1 arrest involves pRB-related proteins and is disrupted by the human papillomavirus 16 E7 oncoprotein. Proc Natl Acad Sci USA 91:5320, 1994 18. Fu L, Benchimol S: Participation of the human p53 38UTR in translational repression and activation following g-irradiation. EMBO J 16:4117, 1997 19. Goldman SC, Chen CY, Lansing TJ, Gilmer TM, Kastan MB: The p53 signal transduction pathway is intact in human neuroblastoma despite cytoplasmic localization. Am J Pathol 148:1381, 1996 20. Maestro R, Gloghini A, Doglioni C, Piccinin S, Vukosavljevic T, Gasparotto D, Carbone A, Boiocchi M: Human non-Hodgkin’s lymphomas overexpress a wild-type form of p53 which is a functional transcription activator of the cyclin-dependent kinase inhibitor p21. Blood 89:2523, 1997 21. Butz K, Shahabeddin L, Geisen C, Spitkovsky D, Ullmann A, Hoppe-Seyler F: Functional p53 protein in human papillomaviruspositive cancer cells. Oncogene 10:927, 1995

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Association of HLA-DRB1 Alleles in Juvenile-onset Systemic Lupus Erythematosus (SLE) in Iranian Children

Introduction Systemic Lupus Erythematosus (SLE) is a complex autoimmune and inflammatory disease. Many studies show HLA alleles can be associated with SLE. The aim of this study was to determine the association of HLA-DRB1 alleles with juvenile- onset in Iranian children. Materials and Methods At a case – control study, 31 children with systemic lupus erythematosus (case group) who referred to ...

متن کامل

Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH).

Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH, symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economic therapeutic approach in hemochromatosis patients but is not indica...

متن کامل

Genetic disorders of iron overload and the novel "ferroportin disease".

A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...

متن کامل

HLA-KIR Interactions and Immunity to Viral Infections

Host genetic factors play a central role in determining the clinical phenotype of human diseases. Association between two polymorphic loci in human genome, human leukocyte antigen (HLA) and killer cell immunoglobulin-like receptors (KIRs), and genetically complex infectious disease, particularly those of viral etiology, have been historically elusive. Hence, defining the influence of genetic di...

متن کامل

Iranian Lurs Genetic Diversity: An Anthropological View Based on HLA Class II Profiles

Background: HLA genes are highly polymorphic and certain alleles are frequent only in specific populations. Therefore, HLA is a unique tool for studying the genetic relationship between different populations. Iranians are ethnically diverse people and one of the major ethnic groups in Iran is Lur population inhabiting along the central and southern parts of Zagros Chain Mountain. Objectives: Ge...

متن کامل

Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia.

Five of seven patients with idiopathic refractory sideroblastic anemia carried an HLA-A3 alloantigen (relative risk, 7.3; P = 0.02). The significance of this association was strengthened by study of two pedigrees. An abnormality in iron metabolism was found in two siblings who had an HLA-A3,B14 haplotype in common with the first proband. A second proband with idiopathic refractory sideroblastic...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Blood

دوره 92 8  شماره 

صفحات  -

تاریخ انتشار 1998