gms | German Medical Science

70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

12.05. - 15.05.2019, Würzburg

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Study of the DNA promoter methylation of CCM genes in human cerebral cavernous malformation

Studie des Methylierungsstatus der Promotoren der CCMGene bei kavernösen Hämangiomen

Meeting Abstract

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  • presenting/speaker Dino Vitali Saban - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland
  • Joel Larisch - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland
  • Ann-Christin Nickel - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland
  • Philipp Dammann - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland
  • Ulrich Sure - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland
  • Yuan Zhu - Universitätsklinikum Essen, Klinik für Neurochirurgie, Essen, Deutschland

Deutsche Gesellschaft für Neurochirurgie. 70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie. Würzburg, 12.-15.05.2019. Düsseldorf: German Medical Science GMS Publishing House; 2019. DocP137

doi: 10.3205/19dgnc473, urn:nbn:de:0183-19dgnc4737

Veröffentlicht: 8. Mai 2019

© 2019 Saban et al.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe http://creativecommons.org/licenses/by/4.0/.

Gliederung

Text

Objective: CCM is the second most common cerebrovascular disease and is classified as familial (20%) and sporadic (80%) forms. Loss of function mutation of three CCM genes can cause the familial CCM. However, the mechanism causing sporadic CCM remains unclear. Considering the DNA promoter region of all three CCM genes contain CpG islands, we hypothesized that DNA methylation of the CpG islands of the CCM genes is involved in the sporadic CCM.

Methods: Using bisulfite conversion methylation specific PCR (MSP), we detected the DNA methylation status of the promoter regions of all CCM genes in 69 samples of human CCMs. This series includes sporadic (n=40), multiple (n=15) and familial (n=14) cases. To further confirm the methylation, four probes showing MSP-positive results for CCM3 were sequenced using deep bisulfite sequencing on the Illumina MiSeq platform.

Results: MSP mostly excluded methylation of CCM1 and CCM2 promotor regions. In the case of CCM3, 12 out of 55 sporadic cases showed positivity for MSP (21,8%). Deep bisulfite sequencing revealed that four CCM3 MSP positive cases were all negative for DNA methylation, due to an incomplete conversion of cytosine nucleotide to uracil during bisulfite treatment.

Conclusion: We conclude DNA methylation of CCM1-3 genes is unlikely involved in human CCM. Our study suggests that it is important to control the efficiency of bisulfite conversion and that deep bisulfite sequencing is a more reliable method which should be considered for DNA methylation study.