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Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration

View ORCID ProfileAntonio Jimenez-Marin, Ibai Diez, Garazi Labayru, Andone Sistiaga, Jorge Sepulcre, Adolfo Lopez de Munain, View ORCID ProfileJesus M. Cortes
doi: https://doi.org/10.1101/2020.07.17.208132
Antonio Jimenez-Marin
1Computational Neuroimaging Group, Biocruces-Bizkaia Health Research Institute. Barakaldo, Spain
2Biomedical Research Doctorate Program, University of the Basque Country (UPV/EHU). Leioa, Spain
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  • ORCID record for Antonio Jimenez-Marin
Ibai Diez
3Department of Radiology, Division of Nuclear Medicine and Molecular Imaging, Massachusetts General Hospital and Harvard Medical School. Boston, United States of America
4Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School. Boston, United States of America
5Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School. Boston, United States of America
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Garazi Labayru
6Neuroscience Area, Biodonostia Research Institute. San Sebastián, Spain
7Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III. Madrid, Spain
8Personality, Assessment and Psychological Treatment Department; Psychology Faculty, University of the Basque Country (UPV/EHU). San Sebastian, Spain
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Andone Sistiaga
6Neuroscience Area, Biodonostia Research Institute. San Sebastián, Spain
7Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III. Madrid, Spain
8Personality, Assessment and Psychological Treatment Department; Psychology Faculty, University of the Basque Country (UPV/EHU). San Sebastian, Spain
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Jorge Sepulcre
3Department of Radiology, Division of Nuclear Medicine and Molecular Imaging, Massachusetts General Hospital and Harvard Medical School. Boston, United States of America
4Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School. Boston, United States of America
5Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School. Boston, United States of America
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Adolfo Lopez de Munain
6Neuroscience Area, Biodonostia Research Institute. San Sebastián, Spain
7Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III. Madrid, Spain
9Neurology Department, Donostia University Hospital. Donostia-San Sebastian, Spain
10Neurosciences Department, University of the Basque Country (UPV/EHU) Donostia-San Sebastian, Spain
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Jesus M. Cortes
1Computational Neuroimaging Group, Biocruces-Bizkaia Health Research Institute. Barakaldo, Spain
11Cell Biology and Histology Department, University of the Basque Country (UPV/EHU). Leioa, Spain
12IKERBASQUE, The Basque Foundation for Science. Bilbao, Spain
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  • For correspondence: jesus.m.cortes@gmail.com
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Abstract

Despite significant research, the biological mechanisms underlying the brain degeneration in Myotonic Dystrophy Type I (DM1) remain largely unknown. Here we have assessed brain degeneration by measuring the volume loss (VL) and cognitive deficits (CD) in two cohorts of DM1 patients, and associating them to the large-scale brain transcriptome maps provided by the Allen Human Brain Atlas (AHBA). From a list of preselected hypothesis-driven genes, three of them appear to play a major role in degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Moreover, a purely data-driven strategy identified gene clusters enriched for key biological processes in the central nervous system, such as synaptic vesicle recycling, localization, endocytosis and exocytosis, and the serotonin and dopamine neurotransmitter pathways. Therefore, by combining large-scale transcriptome interactions with brain imaging and cognitive function, we provide a new more comprehensive understanding of DM1 that might help define future therapeutic strategies and research into this condition.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted July 17, 2020.
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Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration
Antonio Jimenez-Marin, Ibai Diez, Garazi Labayru, Andone Sistiaga, Jorge Sepulcre, Adolfo Lopez de Munain, Jesus M. Cortes
bioRxiv 2020.07.17.208132; doi: https://doi.org/10.1101/2020.07.17.208132
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Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration
Antonio Jimenez-Marin, Ibai Diez, Garazi Labayru, Andone Sistiaga, Jorge Sepulcre, Adolfo Lopez de Munain, Jesus M. Cortes
bioRxiv 2020.07.17.208132; doi: https://doi.org/10.1101/2020.07.17.208132

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