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

Ingo Kurth; 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

doi:10.1038/ng.464

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. Epub 2009 Oct 18.

Authors

Ingo Kurth¹, 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

Affiliation

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Female
Golgi Apparatus / metabolism*
Hereditary Sensory and Autonomic Neuropathies / genetics*
Hereditary Sensory and Autonomic Neuropathies / metabolism
Hereditary Sensory and Autonomic Neuropathies / pathology
Humans
Intracellular Signaling Peptides and Proteins
Male
Membrane Proteins / genetics*
Membrane Proteins / metabolism
Mice
Mutation*
Neoplasm Proteins / genetics*
Pedigree
RNA Interference

Substances

Fam134b protein, mouse
Intracellular Signaling Peptides and Proteins
Membrane Proteins
Neoplasm Proteins
RETREG1 protein, human