Skip to main content
Article
Mitochondrial Degeneration and Not Apoptosis is the Primary Cause of Embryonic Lethality in Ceramide Transfer Protein Mutant Mice
The Journal of Cell Biology
  • Xin Wang
  • Raghavendra Pralhada Rao
  • Teresa Kosakowska-Cholody
  • M. Athar Masood
  • Eileen Southon
  • Helin Zhang
  • Cyril Berthet
  • Kunio Nagashim
  • Timothy D. Veenstra, Cedarville University
  • Lino Tessarollo
  • Usha Acharya
  • Jairaj K. Acharya
Document Type
Article
Publication Date
1-12-2009
DOI
10.1083/jcb.200807176
PubMed ID
19139267
PubMed Central® ID
PMC2615084
Abstract

Ceramide transfer protein (CERT) functions in the transfer of ceramide from the endoplasmic reticulum (ER) to the Golgi. In this study, we show that CERT is an essential gene for mouse development and embryonic survival and, quite strikingly, is critical for mitochondrial integrity. CERT mutant embryos accumulate ceramide in the ER but also mislocalize ceramide to the mitochondria, compromising their function. Cells in mutant embryos show abnormal dilation of the ER and degenerating mitochondria. These subcellular changes manifest as heart defects and cause severely compromised cardiac function and embryonic death around embryonic day 11.5. In spite of ceramide accumulation, CERT mutant mice do not die as a result of enhanced apoptosis. Instead, cell proliferation is impaired, and expression levels of cell cycle-associated proteins are altered. Individual cells survive, perhaps because cell survival mechanisms are activated. Thus, global compromise of ER and mitochondrial integrity caused by ceramide accumulation in CERT mutant mice primarily affects organogenesis rather than causing cell death via apoptotic pathways.

Keywords
  • Apoptosis,
  • biological transport,
  • cell cycle,
  • cell proliferation,
  • ceramides,
  • crosses,
  • genetic,
  • embryo,
  • mammalian,
  • embryonic development,
  • endoplasmic reticulum,
  • genotype,
  • heart defects,
  • congenital,
  • mice,
  • mitochondria,
  • mutation,
  • organogenesis,
  • signal transduction
Citation Information
Xin Wang, Raghavendra Pralhada Rao, Teresa Kosakowska-Cholody, M. Athar Masood, et al.. "Mitochondrial Degeneration and Not Apoptosis is the Primary Cause of Embryonic Lethality in Ceramide Transfer Protein Mutant Mice" The Journal of Cell Biology Vol. 184 Iss. 1 (2009) p. 143 - 158 ISSN: 1540-8140
Available at: http://works.bepress.com/timothy-veenstra/141/