Bax deletion prevents neuronal loss but not neurological symptoms in a transgenic model of inherited prion disease

Proc Natl Acad Sci U S A. 2005 Jan 4;102(1):238-43. doi: 10.1073/pnas.0406173102. Epub 2004 Dec 23.

Abstract

Transgenic Tg(PG14) mice express a mutant prion protein containing 14 octapeptide repeats, whose human homologue is associated with an inherited prion dementia. These mice develop a progressive neurological disorder characterized by ataxia and cerebellar atrophy, with massive apoptotic degeneration of granule neurons. Bax, a proapoptotic gene of the Bcl-2 family, plays a key role in regulating cell death in the nervous system. To analyze the role of Bax in the Tg(PG14) phenotype, we crossed Tg(PG14) mice with Bax(-/-) mice to obtain Tg(PG14)/Bax(-/-) offspring. Bax deletion effectively rescued cerebellar granule neurons from apoptosis, implying that these cells die via a Bax-dependent process. Surprisingly, however, the age at which symptoms began and the duration of the clinical phase of the illness were not altered in Tg(PG14)/Bax(-/-) mice. In addition, Bax deletion failed to prevent shrinkage of the molecular layer of the cerebellum and loss of synaptophysin-positive synaptic endings. Our analysis indicates that synaptic loss makes a critical contribution to the Tg(PG14) phenotype. These results provide insights into the pathogenesis of prion diseases and have important implications for the treatment of these disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Apoptosis / physiology
  • Cerebellum / metabolism
  • Disease Models, Animal
  • Gene Deletion*
  • Mice
  • Mice, Transgenic
  • Neurons / metabolism*
  • Prion Diseases / genetics*
  • Prion Diseases / metabolism
  • Prion Diseases / physiopathology
  • Prions / metabolism*
  • Proto-Oncogene Proteins c-bcl-2 / genetics*
  • Proto-Oncogene Proteins c-bcl-2 / metabolism
  • Synapses / metabolism
  • bcl-2-Associated X Protein

Substances

  • Bax protein, mouse
  • Prions
  • Proto-Oncogene Proteins c-bcl-2
  • bcl-2-Associated X Protein