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  High levels of brain-type creatine kinase activity in human platelets and leukocytes: a genetic anomaly with autosomal dominant inheritance

Arnold, H., Wienker, T. F., Hoffmann, M. M., Scheuerbrandt, G., Kemp, K., & Bugert, P. (2012). High levels of brain-type creatine kinase activity in human platelets and leukocytes: a genetic anomaly with autosomal dominant inheritance. Blood Cells Molecules and Diseases, 48(1), 62-67. doi:10.1016/j.bcmd.2011.10.005.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC62-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC63-0
Genre: Journal Article

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 Creators:
Arnold, Heidwolf1, Author
Wienker, Thomas F.2, 3, Author              
Hoffmann, Michael M.4, Author
Scheuerbrandt, Günter5, Author
Kemp, Katharina6, Author
Bugert, Peter6, Author
Affiliations:
1University of Freiburg, Freiburg, Germany, ou_persistent22              
2Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479643              
3Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany, ou_persistent22              
4University Medical Center, Division of Clinical Chemistry, Department of Medicine, Freiburg, Germany, ou_persistent22              
5CK-Testlaboratory, Breitnau, Germany, ou_persistent22              
6Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, Heidelberg University, German Red Cross Blood Service of Baden-Württemberg-Hessen, Mannheim, Germany, ou_persistent22              

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 Abstract: The ectopic expression in peripheral blood cells of the brain-type creatine kinase (CKB) is an autosomal dominant inherited anomaly named CKBE (MIM ID 123270). Here, we characterized the CK activity in serum, platelets (PLT) and leukocytes (WBC) of 22 probands (from 8 unrelated families) and 10 controls. CK activity was measured by standard UV-photometry. Expression of the CKB gene was analyzed by real-time PCR and Western blotting. DNA sequencing including bisulfite treatment was used for molecular analysis of the CKB gene. Serum CK levels were comparable between probands and controls. CKBE probands revealed significantly higher CK activity in PLT (3.7 +/- 2.7 versus 179.2 +/- 83.0 U/10(12) PLT; p<0.001) and WBC (0.4 +/- 0.3 versus 2.6 +/- 2.1 U/10(9) WBC; p=0.004). Inhibitory anti-CKM antibodies did not affect CK activity indicating that the CK activity is generated exclusively by the CK-BB isoenzyme. CKB mRNA and protein levels were significantly higher in PLT and WBC from probands compared to controls. Re-sequencing of the entire CKB gene and methylation analysis of a CpG island revealed no alteration in CKBE probands. The genetic basis of CKBE remains unclear, however, we propose that a de-methylated CKB gene is inherited that leads to high CKB expression levels in myeloic precursor cells in the bone marrow.

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Language(s): eng - English
 Dates: 2012-01-15
 Publication Status: Published in print
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 Rev. Method: Peer
 Identifiers: DOI: 10.1016/j.bcmd.2011.10.005
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Title: Blood Cells Molecules and Diseases
  Other : Blood Cells Mol. Dis.
Source Genre: Journal
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Publ. Info: Orlando, Fla. : Academic Press
Pages: - Volume / Issue: 48 (1) Sequence Number: - Start / End Page: 62 - 67 Identifier: ISSN: 1079-9796
CoNE: /journals/resource/954927655909