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Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins
dc.contributor.author | Mayer, Jens | |
dc.contributor.author | Sánchez, Laura | |
dc.contributor.author | Rodríguez Heras, Sara | |
dc.contributor.author | García Pérez, José Luis | |
dc.date.accessioned | 2019-11-25T12:29:49Z | |
dc.date.available | 2019-11-25T12:29:49Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Mayer, J., Harz, C., Sanchez, L., Pereira, G. C., Maldener, E., Heras, S. R., ... & García-Pérez, J. L. (2018). Transcriptional profiling of HERV-K (HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins. Molecular neurodegeneration, 13(1), 39. | es_ES |
dc.identifier.uri | http://hdl.handle.net/10481/58051 | |
dc.description.abstract | Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. About 90% of ALS cases are without a known genetic cause. The human endogenous retrovirus multi-copy HERV-K(HML-2) group was recently reported to potentially contribute to neurodegeneration and disease pathogenesis in ALS because of transcriptional upregulation and toxic effects of HML-2 Envelope (Env) protein. Env and other proteins are encoded by some transcriptionally active HML-2 loci. However, more detailed information is required regarding which HML-2 loci are transcribed in ALS, which of their proteins are expressed, and differences between the disease and non-disease states. We identified 24 different transcribed HML-2 loci. Some of those loci are transcribed at relatively high levels. However, significant differences in HML-2 loci transcriptional activities were not seen when comparing ALS and controls. Likewise, overall HML-2 transcript levels, as determined by RT-qPCR, were not significantly different between ALS and controls. Indeed, we were unable to detect full-length HML-2 Env protein in ALS and control tissue samples despite reasonable sensitivity. Rather our analyses suggest that a number of HML-2 protein variants other than full-length Env may potentially be expressed in ALS patients. Our results expand and refine recent publications on HERV-K(HML-2) and ALS. Some of our results are in conflict with recent findings and call for further specific analyses. Our profiling of HML-2 transcription in ALS opens up the possibility that HML-2 proteins other than canonical full-length Env may have to be considered when studying the role of HML-2 in ALS disease. | es_ES |
dc.description.sponsorship | J.L.G. was funded by the NIH National Institute of Neurological Disorders and Stroke (1R03NS087290–01) and Eunice Kennedy Shriver National Institute of Child Health and Human Development (1R21HD083915-01A1), and the ALS Therapy Alliance (2013-F-067). The J.L.G.-P. lab is supported by CICE-FEDERP12- CTS-2256, Plan Nacional de I + D + I 2008–2011 and 2013–2016 (FISFEDER- PI14/02152), PCIN-2014-115-ERA-NET NEURON II, the European Research Council (ERC-Consolidator ERC-STG-2012-233764), by an International Early Career Scientist grant from the Howard Hughes Medical Institute (IECS-55007420), by The Wellcome Trust-University of Edinburgh Institutional Strategic Support Fund (ISFF2) and by a private donation by Ms. Francisca Serrano (Trading y Bolsa para Torpes, Granada, Spain). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Springer Nature | es_ES |
dc.rights | Atribución 3.0 España | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | Amyotrophic lateral sclerosis | es_ES |
dc.subject | Human endogenous retrovirus | es_ES |
dc.subject | Retrotransposon | es_ES |
dc.subject | Reverse transcription | es_ES |
dc.subject | Envelope protein | es_ES |
dc.title | Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins | es_ES |
dc.type | journal article | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.identifier.doi | 10.1186/s13024-018-0275-3 |