High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance
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 cont...
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| creator | Arnold, Heidwolf Wienker, Thomas F. Hoffmann, Michael M. Scheuerbrandt, Günter Kemp, Katharina Bugert, Peter |
| description | 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. |
| doi_str_mv | 10.1016/j.bcmd.2011.10.005 |
| format | Article |
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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.</description><identifier>ISSN: 1079-9796</identifier><identifier>EISSN: 1096-0961</identifier><identifier>DOI: 10.1016/j.bcmd.2011.10.005</identifier><identifier>PMID: 22088263</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Blood Platelets - cytology ; Blood Platelets - enzymology ; Blotting, Western ; Bone Marrow - metabolism ; Brain - enzymology ; Case-Control Studies ; Choristoma - genetics ; Choristoma - metabolism ; CKB gene expression ; Creatine kinase ; Creatine Kinase, BB Form - genetics ; Creatine Kinase, BB Form - metabolism ; Ectopic expression ; Female ; Gene Expression Regulation, Enzymologic ; Genes, Dominant ; Genetic Diseases, Inborn - enzymology ; Germany ; Humans ; Isoenzymes - genetics ; Isoenzymes - metabolism ; Leukocytes - cytology ; Leukocytes - enzymology ; Male ; Middle Aged ; Pedigree ; Platelets ; Real-Time Polymerase Chain Reaction ; RNA, Messenger</subject><ispartof>Blood cells, molecules, & diseases, 2012-01, Vol.48 (1), p.62-67</ispartof><rights>2011</rights><rights>Copyright © 2011. Published by Elsevier Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-f963fb01e43bee19456bf52d4456ef177567527513e0c54884256b89a838a3d83</citedby><cites>FETCH-LOGICAL-c399t-f963fb01e43bee19456bf52d4456ef177567527513e0c54884256b89a838a3d83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bcmd.2011.10.005$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,45974</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22088263$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Arnold, Heidwolf</creatorcontrib><creatorcontrib>Wienker, Thomas F.</creatorcontrib><creatorcontrib>Hoffmann, Michael M.</creatorcontrib><creatorcontrib>Scheuerbrandt, Günter</creatorcontrib><creatorcontrib>Kemp, Katharina</creatorcontrib><creatorcontrib>Bugert, Peter</creatorcontrib><title>High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance</title><title>Blood cells, molecules, & diseases</title><addtitle>Blood Cells Mol Dis</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Blood Platelets - cytology</subject><subject>Blood Platelets - enzymology</subject><subject>Blotting, Western</subject><subject>Bone Marrow - metabolism</subject><subject>Brain - enzymology</subject><subject>Case-Control Studies</subject><subject>Choristoma - genetics</subject><subject>Choristoma - metabolism</subject><subject>CKB gene expression</subject><subject>Creatine kinase</subject><subject>Creatine Kinase, BB Form - genetics</subject><subject>Creatine Kinase, BB Form - metabolism</subject><subject>Ectopic expression</subject><subject>Female</subject><subject>Gene Expression Regulation, Enzymologic</subject><subject>Genes, Dominant</subject><subject>Genetic Diseases, Inborn - enzymology</subject><subject>Germany</subject><subject>Humans</subject><subject>Isoenzymes - genetics</subject><subject>Isoenzymes - metabolism</subject><subject>Leukocytes - cytology</subject><subject>Leukocytes - enzymology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Platelets</subject><subject>Real-Time Polymerase Chain Reaction</subject><subject>RNA, Messenger</subject><issn>1079-9796</issn><issn>1096-0961</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kctO3DAUhi1Exa28AIvKO1aZ-pKLjdggxKUSUjft2nKcE8ZDYk9tZ1CegZeuowGWWLJ8zvF3_sX_I3RByYoSWv_crFozditGKM2DFSHVATqhRNZFvvRwqRtZyEbWx-g0xg0hmZTiCB0zRoRgNT9Bb4_2eY0H2MEQse9xG7R1RZq3gE0AnawD_GKdjoC1SXZn04ytw-tp1A5vB51ggBSxdl0WmV68mRPEK3yDn8FBsib_-FEPM361aY31lHxcetz5Mau6lMXWEGzSzsB39K3XQ4Tz9_cM_b2_-3P7WDz9fvh1e_NUGC5lKnpZ874lFEreAlBZVnXbV6wrcwE9bZqqbirWVJQDMVUpRMkyIaQWXGjeCX6GLve62-D_TRCTGm00MAzagZ-ikpSX-TCaSbYnTfAxBujVNthRh1lRopYM1EYtGaglg2WWM8hLP97lp3aE7nPlw_QMXO-B7DnsLAQVjYVsQGcDmKQ6b7_S_w_0spm1</recordid><startdate>20120115</startdate><enddate>20120115</enddate><creator>Arnold, Heidwolf</creator><creator>Wienker, Thomas F.</creator><creator>Hoffmann, Michael M.</creator><creator>Scheuerbrandt, Günter</creator><creator>Kemp, Katharina</creator><creator>Bugert, Peter</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20120115</creationdate><title>High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance</title><author>Arnold, Heidwolf ; Wienker, Thomas F. ; Hoffmann, Michael M. ; Scheuerbrandt, Günter ; Kemp, Katharina ; Bugert, Peter</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-f963fb01e43bee19456bf52d4456ef177567527513e0c54884256b89a838a3d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Blood Platelets - cytology</topic><topic>Blood Platelets - enzymology</topic><topic>Blotting, Western</topic><topic>Bone Marrow - metabolism</topic><topic>Brain - enzymology</topic><topic>Case-Control Studies</topic><topic>Choristoma - genetics</topic><topic>Choristoma - metabolism</topic><topic>CKB gene expression</topic><topic>Creatine kinase</topic><topic>Creatine Kinase, BB Form - genetics</topic><topic>Creatine Kinase, BB Form - metabolism</topic><topic>Ectopic expression</topic><topic>Female</topic><topic>Gene Expression Regulation, Enzymologic</topic><topic>Genes, Dominant</topic><topic>Genetic Diseases, Inborn - enzymology</topic><topic>Germany</topic><topic>Humans</topic><topic>Isoenzymes - genetics</topic><topic>Isoenzymes - metabolism</topic><topic>Leukocytes - cytology</topic><topic>Leukocytes - enzymology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Platelets</topic><topic>Real-Time Polymerase Chain Reaction</topic><topic>RNA, Messenger</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arnold, Heidwolf</creatorcontrib><creatorcontrib>Wienker, Thomas F.</creatorcontrib><creatorcontrib>Hoffmann, Michael M.</creatorcontrib><creatorcontrib>Scheuerbrandt, Günter</creatorcontrib><creatorcontrib>Kemp, Katharina</creatorcontrib><creatorcontrib>Bugert, Peter</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Blood cells, molecules, & diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arnold, Heidwolf</au><au>Wienker, Thomas F.</au><au>Hoffmann, Michael M.</au><au>Scheuerbrandt, Günter</au><au>Kemp, Katharina</au><au>Bugert, Peter</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance</atitle><jtitle>Blood cells, molecules, & diseases</jtitle><addtitle>Blood Cells Mol Dis</addtitle><date>2012-01-15</date><risdate>2012</risdate><volume>48</volume><issue>1</issue><spage>62</spage><epage>67</epage><pages>62-67</pages><issn>1079-9796</issn><eissn>1096-0961</eissn><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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>22088263</pmid><doi>10.1016/j.bcmd.2011.10.005</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Blood cells, molecules, & diseases, 2012-01, Vol.48 (1), p.62-67 |
| issn | 1079-9796 1096-0961 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Blood Platelets - cytology Blood Platelets - enzymology Blotting, Western Bone Marrow - metabolism Brain - enzymology Case-Control Studies Choristoma - genetics Choristoma - metabolism CKB gene expression Creatine kinase Creatine Kinase, BB Form - genetics Creatine Kinase, BB Form - metabolism Ectopic expression Female Gene Expression Regulation, Enzymologic Genes, Dominant Genetic Diseases, Inborn - enzymology Germany Humans Isoenzymes - genetics Isoenzymes - metabolism Leukocytes - cytology Leukocytes - enzymology Male Middle Aged Pedigree Platelets Real-Time Polymerase Chain Reaction RNA, Messenger |
| title | High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance |
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