TITLE:
Identifying Unique Protein Alterations Caused by SPTLC1 Mutations in a Transfected Neuronal Cell Model
AUTHORS:
Scott E. Stimpson, Anu Shanu, Jens R. Coorssen, Simon J. Myers
KEYWORDS:
Hereditary Sensory Neuropathy Type 1, ND15, SPTLC1, ER Stress, Coactosin
JOURNAL NAME:
World Journal of Neuroscience,
Vol.6 No.4,
November
30,
2016
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.