Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development

• Published in: Gene Expression Patterns Vol. 6; no. 5; pp. 495 - 503
• Main Authors: Petit, Nathalie, Blécon, Anne, Denier, Christian, Tournier-Lasserve, Elisabeth
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.06.2006
• Subjects: Angioma, KRIT1; Animals; Blood Vessels - metabolism; Blotting, Northern; Brain - abnormalities; Brain - blood supply; Brain - embryology; Brain - growth & development; Capillary; Cerebral cavernous malformation; Embryonic Development; In Situ Hybridization; KRIT1 Protein; MGC4607; Mice; Microtubule-Associated Proteins - genetics; Myocardium - metabolism; Nervous system; PDCD10; Proto-Oncogene Proteins - genetics; RNA, Messenger - genetics; Angioma, KRIT1; MGC4607; PDCD10; Capillary; Cerebral cavernous malformation; Nervous system; In situ hybridization
• ISSN: 1567-133X; 1872-7298
• DOI: 10.1016/j.modgep.2005.11.001

Cerebral Cavernous Malformation (CCM) is a disease characterized by capillary-venous lesions mostly located in the central nervous system. It occurs both as a sporadic and hereditary autosomal dominant condition. Three CCM genes have been identified and shown to encode the KRIT1 (CCM1), MGC4607 (CCM2) and PDCD10 (CCM3) proteins whose functions are so far unknown. In an attempt to get some insight into the role of the 3 CCM genes, we used in situ hybridization to conduct a comparative analysis of their expression pattern at several time points during murine embryonic, postnatal and adult stages particularly within the central nervous system. A strong expression of the 3 Ccm genes was detected in the various neuronal cell layers of the brain, cerebellum and spinal cord, from embryonic to adult life. By E14.5 a moderate labelling was observed in the heart, arterial and venous large vessels with all 3 Ccm probes. Ccm2 and Ccm3 mRNAs, but not Ccm1, were clearly detected within meningeal and parenchymal cortical vessels at P8. This expression was no more detected by P19 and in adult murine brain, strongly suggesting a role for these 2 proteins in the intensive angiogenesis process occuring within the central nervous system during this period.