alexa Isolation and Identification of ER Associated Proteins with Unique Expression Changes Specific to the V144D SPTLC1 Mutations in HSN-I | OMICS International | Abstract
ISSN: 2161-1009

Biochemistry & Analytical Biochemistry
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Research Article

Isolation and Identification of ER Associated Proteins with Unique Expression Changes Specific to the V144D SPTLC1 Mutations in HSN-I

Scott E Stimpson1,3,4, Antonio Lauto4,6, Jens R Coorssen2,3,4,5* and Simon J Myers1,3,4,5*

1Neuro-Cell Biology Laboratory, Western Sydney University, Australia

2Molecular Physiology, Western Sydney University, Australia

3Molecular Medicine Research Group, Western Sydney University, Australia

4School of Science and Health, Western Sydney University, Australia

5School of Medicine, Western Sydney University, Australia

6Biomedical Engineering and Neuroscience (BENS), Western Sydney University, Australia

*Corresponding Author:
Simon J. Myers
Western Sydney University
Campbelltown campus, Locked Bag 1797
Penrith, Australia
Tel: +61 02 4620 3383
E-mail: [email protected]

Jens Coorssen
Professor, Western Sydney University
Campbelltown campus, Locked
Bag 1797, Penrith, Australia
Tel: +61 4620 3802
E-mail: [email protected]

Received Date: February 06, 2016 Accepted Date: February 15, 2016 Published Date: February 18, 2016

Citation: Stimpson SE, Lauto A, Coorssen JR, Myers SJ (2016) Isolation and Identification of ER Associated Proteins with Unique Expression Changes Specific to the V144D SPTLC1 Mutations in HSN-I. Biochem Anal Biochem 5:248. doi:10.4172/2161-1009.1000248

Copyright: © 2016 Stimpson SE, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Axonal degeneration is the final common path in many neurological disorders. Hereditary sensory neuropathies (HSN) are a group of neuropathies involving the sensory neurons. The most common subtype is autosomal dominant hereditary sensory neuropathy type I (HSN-I). Progressive degeneration of the dorsal root ganglion (DRG) neuron with an onset of clinical symptoms between the second or third decade of life characterises HSN-I. Mutations in the serine palmitoyltransferase (SPT) long chain subunit 1 (SPTLC1) gene cause HSN-I. The endoplasmic reticulum (ER) is a dynamic organelle that houses the SPTLC1 protein. Ultra structural analysis has shown the ER in the HSN-I mutant cells to wrap around dysfunctional mitochondria and tethers them to the perinucleus. This investigation establishes that the V144D mutant of SPTLC1 alters the expression of and potentially interacts with a set of proteins within the ER. Using ER protein lysates from HSN-I patient and control lymphoblasts: we have identified a change in regulation of five proteins; Hypoxia Up regulated Protein 1: Chloride intracellular channel protein 1: Ubiqutin-40s Ribosomal protein S27a: Coactosin and Ig Kappa chain C. The expression and regulation of these proteins may help to establish a link between the ER and the ‘dying back’ process of the DRG neuron.

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