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Author Notes:

Address correspondence to: Victor Faundez, Department of Cell Biology, Emory University School of Medicine, 615 Michael Street, Room 446, Atlanta, GA 30322, Telephone: 404-727-3900, Fax: 404-727-6256, faundez@cellbio.emory.edu.

Subjects:

Research Funding:

This work was supported by grants from the National Institutes of Health to V.F. (NS42599) and T32 GM008367, National Institutes of Health, Training Program in Biochemistry, Cell, and Molecular Biology to P.V.R.

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Biochemistry & Molecular Biology
  • Cell Biology
  • LYSOSOME-RELATED ORGANELLES
  • HERMANSKY-PUDLAK-SYNDROME
  • ACETYLCHOLINE-RECEPTOR
  • HIPPOCAMPAL-FORMATION
  • ENDOCYTIC PATHWAY
  • COMMON VARIANTS
  • CELL BIOLOGY
  • PROTEIN
  • TRAFFICKING
  • COMPLEX

Schizophrenia: The "BLOC" May Be in the Endosomes

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Journal Title:

Science Signaling

Volume:

Volume 2, Number 93

Publisher:

, Pages pe66-pe66

Type of Work:

Article | Post-print: After Peer Review

Abstract:

Genome-wide association studies have identified multiple genetic polymorphisms associated with schizophrenia. These polymorphisms conform to a polygenic disease model in which multiple alleles cumulatively increase the risk of developing disease. Two genes linked to schizophrenia, DTNBP1 and MUTED, encode proteins that belong to the endosome-localized Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1). BLOC-1 plays a key role in endosomal trafficking and as such has been found to regulate cell-surface abundance of the D2 dopamine receptor, the biogenesis and fusion of synaptic vesicles, and neurite outgrowth. These functions are pertinent to both neurodevelopment and synaptic transmission, processes tightly regulated by selective cell-surface delivery of membrane proteins to and from endosomes. We propose that cellular processes, such as endosomal trafficking, act as convergence points in which multiple small effects from polygenic genetic polymorphisms accumulate to promote the development of schizophrenia.

Copyright information:

Copyright 2008 by the American Association for the Advancement of Science; all rights reserved.

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