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Cited by 60Amyotrophic Lateral Sclerosis ResearchChromosomal and Genetic VariationsAlzheimer's disease research and treatments

Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins

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Mayer, Jens, Harz, Christian, Sanchez, Laura, Pereira, Gavin C., Maldener, Esther, Heras, Sara R., Ostrow, Lyle W., Ravits, John +4 more·2018·Molecular Neurodegeneration
DOI 10.1186/s13024-018-0275-3PMC PMC6091006
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Abstract

BACKGROUND: 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. METHODS: For brain and spinal cord tissue samples from ALS patients and controls, we identified transcribed HML-2 loci by generating and mapping HML-2-specific cDNA sequences. We predicted expression of HML-2 env gene-derived proteins based on the observed cDNA sequences. Furthermore, we determined overall HML-2 transcript levels by RT-qPCR and investigated presence of HML-2 Env protein in ALS and control tissue samples by Western blotting. RESULTS: 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. CONCLUSIONS: 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.

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Authors
Mayer, J., Harz, C., Sanchez, L., Pereira, G. C., Maldener, E., Heras, S. R., Ostrow, L. W., Ravits, J., Batra, R., Meese, E., García-Pérez, J. L., & Goodier, J. L.
Affiliations
  • Saarland University (DE)
  • Johns Hopkins University (US)
  • Universidad de Granada (ES)
  • University of California San Diego (US)
Corresponding author
  • Mayer, Jens
  • Goodier, John L.
ORCID
Venue
Molecular Neurodegeneration
Publisher
Springer Science and Business Media LLC
Published
2018-08-02
Volume
13
Issue
1
Pages
39-39
ISSN
1750-1326 (ISSN-L)
DOI
10.1186/s13024-018-0275-3
PMC
PMC6091006
OpenAlex
W2886559270
Cited by
60
References
91
Citations by year
2026: 2 · 2025: 3 · 2024: 8 · 2023: 6 · 2022: 12 · 2021: 9 · 2020: 7 · 2019: 11 · 2018: 2
FWCI
4.92
Type
journal article
Language
en
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Funders
  • Howard Hughes Medical Institute (IECS-55007420)
  • ALS Therapy Alliance (2013-F-067)
  • Johns Hopkins University
  • Wellcome Trust (ISFF2)
  • Target ALS
  • European Commission (233764)
  • National Institutes of Health (5r03ns087290-02, 2013-2016)
  • National Institute of Neurological Disorders and Stroke (R03 NS087290, 1R03NS087290-01)
  • National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R21HD083915)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords
amyotrophic lateral sclerosis, HERV-K(HML-2), endogenous retroviruses, neurodegeneration
MeSH terms
Amyotrophic Lateral Sclerosis, Humans, Membrane Proteins, Proviruses, Superantigens, Endogenous Retroviruses, Gene Expression Profiling, Transcriptome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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