Identifying unique protein alterations caused by SPTLC1 mutations in a transfected neuronal cell model

Scott E. Stimpson, Anu Shanu, Jens R. Coorssen, Simon J. Myers

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary sensory neuropathy type I is an autosomal dominant disorder that affects the sensory neurons. Three missense mutations in serine palmitoyltransferase long chain subunit 1 cause hereditary sensory neuropathy type I. The endoplasmic reticulum, where the serine palmitoyltransferase long chain subunit 1 protein resides, and mitochondria are both altered in hereditary sensory neuropathy type I mutant cells. Employing a transfected neuronal cell line (ND15), we have identified and confirmed altered protein expression levels of ubiquinol cytochrome C, Hypoxia Up regulated Protein 1, Chloride Intracellular Channel Protein 1, Ubiqutin-40s Ribosomal Protein S27a, and Coactosin. Additionally, further 14 new proteins that exhibited altered expression within V144D, C133W and C133Y mutants were identified. These data have shown that mutations in SPTLC1 alter the expression of a set of proteins that may help to establish a causal link between the mitochondria and ER and the “dying back” process of dorsal root ganglion neurons that occurs in HSN-I.
Original languageEnglish
Pages (from-to)325-347
Number of pages23
JournalWorld Journal of Neuroscience
Volume6
Issue number4
DOIs
Publication statusPublished - 2016

Open Access - Access Right Statement

©2016 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY 4.0).

Keywords

  • Coactosin
  • Hereditary sensory neuropathy type 1
  • degeneration
  • nervous system

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