Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1

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• 作者：Scott E. Stimpson (1) (3) (4)
  Jens R. Coorssen (2) (3) (4) (5) (7)
  Simon J. Myers (1) (3) (4) (5) (6)
  
  1. Neuro-Cell Biology Laboratory ; University of Western Sydney ; Penrith ; Australia
  3. Molecular Medicine Research Group ; University of Western Sydney ; Penrith ; Australia
  4. School of Science and Health ; University of Western Sydney ; Penrith ; Australia
  2. Molecular Physiology ; University of Western Sydney ; Penrith ; Australia
  5. School of Medicine ; University of Western Sydney ; Locked Bag 1797 ; Penrith ; NSW ; 2751 ; Australia
  7. School of Medicine ; University of Western Sydney ; Office 30.2.15 ; Campbelltown campus ; Locked Bag 1797 ; Penrith ; NSW ; 2751 ; Australia
  6. University of Western Sydney ; Office 21.1.05 ; Campbelltown campus ; Locked Bag 1797 ; Penrith ; NSW ; 2751 ; Australia
  
• 关键词：Hereditary sensory neuropathy type 1 ; Serine palmitoyltransferase long chain subunit 1 ; Mitochondria ; Ubiquinol ; cytochrome c reductase core protein 1
• 刊名：Journal of Chemical Biology
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：8
• 期：1
• 页码：25-35
• 全文大小：3,552 KB
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• 刊物主题：Physical Chemistry; Biophysics and Biological Physics; Cell Biology; Pharmacology/Toxicology; Biochemistry, general;
• 出版者：Springer Berlin Heidelberg
• ISSN：1864-6166

文摘

Axonal degeneration is the final common path in many neurological disorders. Subsets of neuropathies involving the sensory neuron are known as hereditary sensory neuropathies (HSNs). Hereditary sensory neuropathy type I (HSN-I) is the most common subtype of HSN with autosomal dominant inheritance. It is characterized by the progressive degeneration of the dorsal root ganglion (DRG) with clinical symptom onset between the second or third decade of life. Heterozygous mutations in the serine palmitoyltransferase (SPT) long chain subunit 1 (SPTLC1) gene were identified as the pathogenic cause of HSN-I. Ultrastructural analysis of mitochondria from HSN-I patient cells has displayed unique morphological abnormalities that are clustered to the perinucleus where they are wrapped by the endoplasmic reticulum (ER). This investigation defines a small subset of proteins with major alterations in abundance in mitochondria harvested from HSN-I mutant SPTLC1 cells. Using mitochondrial protein isolates from control and patient lymphoblasts, and a combination of 2D gel electrophoresis, immunoblotting and mass spectrometry, we have shown the increased abundance of ubiquinol-cytochrome c reductase core protein 1, an electron transport chain protein, as well as the immunoglobulin, Ig kappa chain C. The regulation of these proteins may provide a new route to understanding the cellular and molecular mechanisms underlying HSN-I.