Brief Communication abstract
Nature Genetics 41, 1179 - 1181 (2009)
Published online: 18 October 2009 | doi:10.1038/ng.464
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Ingo Kurth1,13, Torsten Pamminger2,13, J Christopher Hennings2, Désirée Soehendra1, Antje K Huebner2, Annelies Rotthier3,4, Jonathan Baets4,5, Jan Senderek6, Haluk Topaloglu7, Sandra A Farrell8, Gudrun Nürnberg9,10, Peter Nürnberg9,10,11, Peter De Jonghe4,5, Andreas Gal1, Christoph Kaether12, Vincent Timmerman3,4 & Christian A Hübner1,2
Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II. Fam134b knockdown results in structural alterations of the cis-Golgi compartment and induces apoptosis in some primary dorsal root ganglion neurons. This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons.
- Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Department of Clinical Chemistry, Friedrich-Schiller-Universität Jena, Jena, Germany.
- Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
- Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
- Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
- Institute of Cell Biology, ETH Zürich, Zürich, Switzerland.
- Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
- Credit Valley Hospital, Department of Laboratory Medicine, Mississauga, Ontario, Canada.
- Cologne Center for Genomics, University of Cologne, Cologne, Germany.
- Institute for Genetics, University of Cologne, Cologne, Germany.
- Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
- Leibniz Institute for Age Research–Fritz Lipmann Institute, Jena, Germany.
- These authors contributed equally to this work.
Correspondence to: Christian A Hübner1,2 e-mail: christian.huebner@med.uni-jena.de
Correspondence to: Ingo Kurth1,13 e-mail: i.kurth@uke.uni-hamburg.de
