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DYNLT1 gene expression is downregulated in whole blood of patients at different Huntington’s disease stages

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Abstract

Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG nucleotide expansion, which encodes the amino acid glutamine, in the huntingtin gene. HD is characterized by motor, cognitive, and psychiatric dysfunctions. In a previous study, we showed by qPCR that some genes altered in an HD mouse model were also altered in blood of HD patients. These alterations were mainly with respect to the dynein family. Therefore, this study aimed to investigate whether dynein light chain Tctex type 1 (DYNLT1) is altered in HD patients and if there is a correlation between DYNLT1 gene expression changes and disease progression. We assessed the DYNLT1 gene expression in the blood of 19 HD patients and 20 healthy age-matched controls. Also, in 6 of these patients, we analyzed the DYNLT1 expression at two time points, 3 years apart. The DYNLT1 gene expression in the whole blood of HD patients was significantly downregulated and this difference was widened in later stages. These data suggest that DYNLT1 could emerge as a peripheral prognostic indicator in HD and, also, might be a target for potential intervention in the future.

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Acknowledgments

The authors thank the Health Sciences Center facility Laboratório de Análises Biomoleculares (LABIOM) for the support with molecular analysis. We are grateful to the laboratory Hermes Pardini, for molecular diagnosis.

Funding

This work was supported by Fundação de Amparo a Pesquisa do Estado do Espírito Santo (FAPES) grants to DAMG, FAPES/CNPq/MS-Decit/SESA – PPSUS (edital n° 10/2013), process 65823648/2014.

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Authors and Affiliations

  1. Graduate Program in Biochemistry and Pharmacology, Health Sciences Center, Federal University of Espírito Santo, Vitória, ES, Brazil

    S. M. Rosseto, C. Martins-Silva, D. A. Guimarães & Rita G. W. Pires

  2. Laboratory of Molecular and Behavioral Neurobiology, Health Sciences Center, Federal University of Espírito Santo, Vitória, ES, Brazil

    T. A. Alarcon, C. Martins-Silva & Rita G. W. Pires

  3. Department of Pharmaceutical Sciences, Health Sciences Center, Federal University of Espírito Santo, Vitória, ES, 29043-900, Brazil

    D. M. C. Rocha & D. A. Guimarães

  4. Department of Biochemistry and Immunology, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte, MG, Brazil

    F. M. Ribeiro

  5. Department of Cellular and Molecular Medicine, Brain and Mind Research Institute and Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada

    S. S. G. Ferguson

  6. Department of Clinical Medicine, Health Science Center, Federal University of Espírito Santo, Espírito Santo, Brazil

    M. R. Muniz

  7. Department of Physiotherapy, School of Sciences, Santa Casa de Misericordia de Vitoria, Vitória, ES, Brazil

    P. F. Costa

  8. Department of Physiological Sciences, Health Sciences Center, Federal University of Espirito Santo, Vitória, ES, 29043-910, Brazil

    Rita G. W. Pires

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  1. S. M. Rosseto
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Correspondence to Rita G. W. Pires.

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All procedures were in accordance with the Federal University of Espírito Santo Human Research Committee by the number 1.856.340/2016.

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Rosseto, S.M., Alarcon, T.A., Rocha, D.M.C. et al. DYNLT1 gene expression is downregulated in whole blood of patients at different Huntington’s disease stages. Neurol Sci 42, 1963–1967 (2021). https://doi.org/10.1007/s10072-020-04772-0

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