Format

Send to

Choose Destination
See comment in PubMed Commons below
PLoS One. 2014 Feb 21;9(2):e89439. doi: 10.1371/journal.pone.0089439. eCollection 2014.

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

Author information

  • 1Institute of Human Genetics, Technische Universität München, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • 2Department of Cell Biology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • 3Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • 4Sensory Neurogenetics Research Group, Max Planck Institute of Neurobiology, Martinsried, Germany.

Abstract

Mutations in the orphan gene C19orf12 were identified as a genetic cause in a subgroup of patients with NBIA, a neurodegenerative disorder characterized by deposits of iron in the basal ganglia. C19orf12 was shown to be localized in mitochondria, however, nothing is known about its activity and no functional link exists to the clinical phenotype of the patients. This situation led us to investigate the effects of C19orf12 down-regulation in the model organism Drosophila melanogaster. Two genes are present in D. melanogaster, which are orthologs of C19orf12, CG3740 and CG11671. Here we provide evidence that transgenic flies with impaired C19orf12 homologs reflect the neurodegenerative phenotype and represent a valid tool to further analyze the pathomechanism in C19orf12-associated NBIA.

PMID:
24586779
PMCID:
PMC3931782
DOI:
10.1371/journal.pone.0089439
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Public Library of Science Icon for PubMed Central
    Loading ...
    Support Center