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Role Of KIF23/MKLP1 Causing Congenital Dyserythropoietic Anemia Type III In Cancer | 19917
ISSN: 2155-9864

Journal of Blood Disorders & Transfusion
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2nd International Conference on Hematology & Blood Disorders

Irina Golovleva
Accepted Abstracts: J Blood Disorders Transf
DOI: 10.4172/2155-9864.S1.008
Abstract
Mitotic kinesin-like protein, MKLP1 (KIF23) known as a key regulator of cytokinesis was shown in the recent study, to be associated with congenital dyserythropoietic anemia type III (CDA III). CDA III is the rarest form of CDAs with about 60 cases described globally. The disease is characterized by intravascular hemolysis in combination with dyserythropoiesis with large multinucleated erythroblasts in the bone marrow. In the Swedish family, retinal angioid streaks, monoclonal gammopathy of undetermined significance (MGUS), and myeloma have also developed in a substantial number of patients. The study showed that CDA III is caused by a mutation in KIF23 gene. c.2747C>G (p.P916R) mutation segregated the disease in two unrelated families and caused more frequent cytokinesis failure than the wild-type GFP-MKLP1 in knockdown and rescue experiments which demonstrated the most characteristic pathological CDA III feature, i.e., the large multinucleated erythroblasts found in bone marrows of the patients. It was also detected a novel KIF23 isoform which lacked two exons in the C-terminal part of the protein which is important for binding of ADP-ribosylation factors. Finally, recent data on over-expression of KIF23 in several types of cancer such as glioblastoma and non-small cell lung cancer (NSCLC) emphasize the role of KIF23 as a target for anticancer drugs affecting cell proliferation. The present study of MKLP1 in CDA III and the studies of MKLP1 in different cancer forms by others will result in a better understanding of the pathogenesis of these disorders, probably, making MKLP1 a valuable biomarker.
Biography
Irina Golovleva has completed her MD and PhD at the age of 30 years in Moscow, Russia and Postdoctoral studies at Cell and Molecular Biology Department, University of Ume? and at Molecular Hematology, Great Ormond Street Hospital for Sick Children, London, UK. She is responsible for cytogenetic and molecular diagnostics of hematological disorders at Clinical Genetics at the Hospital of Ume? and Associate Professor at the Department of Medical Biosciences at the University of Ume?. She has published more than 60 papers in reputed journals.
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