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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Chapman, Edwin R. Nürnberg, Peter Schuh, Amber L. Fothergill, Thomas Thakur, Seema Johnson, Adam Varga, Rita-eva Hertel, Nicole Audhya, Anjon Dent, Erik W. Altmüller, Janine Beetz, Christian Nürnberg, Gudrun Bomba-warczak, Ewa Saxena, Renu Thiele, Holger |
| Description | Author Affiliation: Beetz C ( Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, 07747 Jena, Germany.); |
| Abstract | Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy. Genome-wide SNP-typing, linkage analysis, and exome sequencing revealed a homozygous c.316C>T (p.R106C) variant in the Trk-fused gene (TFG) as the only plausible mutation. Biochemical characterization of the mutant protein demonstrated a defect in its ability to self-assemble into an oligomeric complex, which is critical for normal TFG function. In cell lines, TFG inhibition slows protein secretion from the endoplasmic reticulum (ER) and alters ER morphology, disrupting organization of peripheral ER tubules and causing collapse of the ER network onto the underlying microtubule cytoskeleton. The present study provides a unique link between altered ER architecture and neurodegeneration. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 13 |
| Volume Number | 110 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2013-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Axons Metabolism Endoplasmic Reticulum Mutation, Missense Nerve Tissue Proteins Polymorphism, Single Nucleotide Proteins Spastic Paraplegia, Hereditary Amino Acid Substitution Animals Pathology Cell Line Genetics Exons Genetic Linkage Genome-Wide Association Study Mice Microtubules Pedigree Xenopus Zebrafish Clinical Trial Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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