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

Volumn 48, Issue 1, 2012, Pages 62-67

  Arnold, Heidwolf ^a   Wienker, Thomas F ^b   Hoffmann, Michael M ^c   Scheuerbrandt, Günter ^d   Kemp, Katharina ^e   Bugert, Peter ^e  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d CK Testlaboratory ^*  (Germany)

^e MEDICAL FACULTY MANNHEIM HEIDELBERG UNIVERSITY   (Germany)

Author keywords

CKB gene expression; Creatine kinase; Ectopic expression; Platelets

Indexed keywords

BISULFITE; CREATINE KINASE BB; CREATINE KINASE BB ANTIBODY; DNA; MESSENGER RNA; POLYCLONAL ANTIBODY; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; CREATINE KINASE BB GENE; CREATINE KINASE BLOOD LEVEL; DNA METHYLATION; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SILENCER GENE; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE; ULTRAVIOLET SPECTROPHOTOMETRY; WESTERN BLOTTING;

ADOLESCENT; ADULT; BLOOD PLATELETS; BLOTTING, WESTERN; BONE MARROW; BRAIN; CASE-CONTROL STUDIES; CHORISTOMA; CREATINE KINASE, BB FORM; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENES, DOMINANT; GENETIC DISEASES, INBORN; GERMANY; HUMANS; ISOENZYMES; LEUKOCYTES; MALE; MIDDLE AGED; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84855192046     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.10.005     Document Type: Article

References (18)

1. Kloss R., Keller H.E., Stober T., Emde H., Schimrigk K. Creatine kinase BB activity in the serum of patients with cerebrovascular diseases. Nervenarzt 1985, 56:417-422.
2. Hoffman E.P., Clemens P.R. HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies and merosinopathies. Curr. Opin. Rheumatol. 1996, 8:528-538.
3. Hina K., Kusachi S., Iwasaki K., Takaishi A., Yamamoto K., Tominaga Y., Kita T., Tsuji T. Use of serum creatine kinase MM isoforms for predicting the progression of left ventricular dilatation in patients with hypertrophic cardiomyopathy. Jpn. Circ. J. 1997, 61:315-322.
4. Zellweger H., Antonik A. Newborn screening for Duchenne Muscular Dystrophy. Pediatrics 1975, 55:30-34.
5. Scheuerbrandt G., Lundin A., Lövgren T., Mortier W. Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve 1986, 9:11-23.
6. Arnold H., Löhr G.W., Scheuerbrandt G., Beckmann R. Creatine kinase in human erythrocytes: a newly detected genetic anomaly. Blut 1978, 37:249-256.
7. Wienker T.F., Ulferts A., Ott J., Bender K., Scheuerbrandt G., Arnold H., Ropers H.H. A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14 close to GM (Abstract). Cytogenet. Cell Genet. 1985, 40:776.
8. Rolf N., Knoefler R., Suttorp M., Klüter H., Bugert P. Optimized procedure for platelet RNA profiling from blood samples with limited platelet numbers. Clin. Chem. 2005, 51:1078-1080.
9. Bugert P., Dugrillon A., Günaydin A., Eichler H., Klüter H. Messenger RNA profiling of human platelets by microarray hybridization. Thromb. Haemost. 2003, 90:738-748.
10. Vandesompele J., de Preter K., Pattyn F., Poppe B., van Roy N., de Paepe A., Speleman F. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002, 3. (Research0034).
11. Rozen S., Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 2000, 132:365-386.
12. Ritchie M.E., Trask R.V., Fontanet H.L., Billadello J.J. Multiple positive and negative elements regulate human brain creatine kinase gene expression. Nucleic Acids Res. 1991, 19:6231-6240.
13. Wallimann T., Wyss M., Brdiczka D., Nicolay K., Eppenberger H.M. Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the "phophocreatine circuit" for cellular energy homeostasis. Biochem. J. 1992, 281:21-40.
14. Traniello S., D'Aloya M.G., Grazi E. Creatine phosphokinase activity in human polymorphonuclear leukocytes. Experientia 1975, 31:278-280.
15. Day I.N.M., Thompson R.J. Levels of immunoreactive aldolase C, creatine kinase-BB, neuronal and non-neuronal enolase, and 14-3-3 protein in circulating human blood cells. Clin. Chim. Acta 1984, 136:219-228.
16. Cornbleet P.J., Evans M.D. Creatine kinase BB isoenzyme activity in patients with hematologic disorders. Clin. Chem. 1980, 26:1635-1636.
17. Ishikawa J., Taniguchi T., Takeshita A., Maekawa M. Increased creatine kinase BB activity and CKB mRNA expression in patients with hematologic disorders: relation to methylation status of the CKB promoter. Clin. Chim. Acta 2005, 361:135-140.
18. Kuiper J.W., Pluk H., Oerlemans F., van Leeuwen F.N., de Lange F., Fransen J., Wieringa B. Creatine kinase-mediated ATP supply fuels actin-based events in phagocytosis. PLoS Biol. 2008, 6(e51):568-580.