Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

  • Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464.
Ingo Kurth  1 ,  Torsten Pamminger ,  J Christopher Hennings ,  Désirée Soehendra ,  Antje K Huebner ,  Annelies Rotthier ,  Jonathan Baets ,  Jan Senderek ,  Haluk Topaloglu ,  Sandra A Farrell ,  Gudrun Nürnberg ,  Peter Nürnberg ,  Peter De Jonghe ,  Andreas Gal ,  Christoph Kaether ,  Vincent Timmerman ,  Christian A Hübner
Affiliations
  • 1. Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. [email protected]
PMID: 19838196 DOI: 10.1038/ng.464
Abstract

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.