Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
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. i.kurth@uke.uni-hamburg.de
Ingo
I
Kurth
Torsten
T
Pamminger
J Christopher
JC
Hennings
Désirée
D
Soehendra
Antje K
AK
Huebner
Annelies
A
Rotthier
Jonathan
J
Baets
Jan
J
Senderek
Haluk
H
Topaloglu
Sandra A
SA
Farrell
Gudrun
G
Nürnberg
Peter
P
Nürnberg
Peter
P
De Jonghe
Andreas
A
Gal
Christoph
C
Kaether
Vincent
V
Timmerman
Christian A
CA
Hübner
D000328:Adult; D000818:Animals; D005260:Female; D006056:Golgi Apparatus / Q000378:metabolism*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D034622:RNA Interference
C545052:Fam134b protein, mouse; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C522691:RETREG1 protein, human