gms | German Medical Science

57. Jahrestagung der Deutschen Gesellschaft für Neuropathologie und Neuroanatomie (DGNN)

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie

12. - 15.09.2012, Erlangen

Banner: 57. Jahrestagung der Deutschen Gesellschaft für Neuropathologie und Neuroanatomie

CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly

Meeting Abstract

  • Lina Issa - Charité, Pediatric Neurology, Berlin, Germany; Charité, Institute of Cell Biology and Neurobiology, Berlin, Germany
  • Nadine Krämer - Charité, Pediatric Neurology, Berlin, Germany; Charité, Institute of Cell Biology and Neurobiology, Berlin, Germany
  • Christian H. Rickert - Charité, Pediatric Neurology, Berlin, Germany
  • Olaf Ninnemann - Charité, Institute of Cell Biology and Neurobiology, Berlin, Germany
  • Gisela Stoltenburg-Didinger - Charité, Institute of Cell Biology and Neurobiology, Berlin, Germany
  • presenting/speaker Angela M. Kaindl - Charité, Pediatric Neurology, Berlin, Germany; Charité, Institute of Cell Biology and Neurobiology, Berlin, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP5.11

doi: 10.3205/12dgnn111, urn:nbn:de:0183-12dgnn1110

Veröffentlicht: 11. September 2012

© 2012 Issa et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Homozygous mutations in the Cyclin dependent kinase 5 regulatory subunit-associated protein 2 geneCDK5RAP2cause primary autosomal recessive microcephaly (MCPH). MCPH is characterized by a pronounced reduction of brain volume, particularly of the cerebral cortex, and mental retardation. Though it is a rare developmental disorder, MCPH has moved into the spotlight of neuroscience because of its proposed central role in stem-cell biology and brain development. Investigation of the neural basis of genetically defined MCPH has been limited to animal studies and neuroimaging of affected patients as no neuropathological studies have been published. In the present study, we depict the spatiotemporal expression of CDK5RAP2 in the developing brain of mouse and human. We found intriguing concordance between regions of high CDK5RAP2 expression in the mouse and sites of pathology suggested by neuroimaging in humans and from mouse studies. Our findings in human tissue confirm those in mouse tissues, underlining the function of CDK5RAP2 in cell proliferation and arguing for a conserved role of this protein in the development of the mammalian cerebral cortex.