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Mario Gomes-Pereira

Inserm Research Director

Mario Gomes-Pereira
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Titles and positions

  • Accreditation to Direct Research (HDR) – Paris Cité University
  • PhD, Molecular Genetics – University of Glasgow, Scotland, United Kingdom Glasgow, Ecosse

Expertises

  • Molecular and Cell Biology
  • Trinucleotide repeats
  • Myotonic dystrophies
  • Animal and cell models
  • Pathophysiology
  • Neurobiology
  • Unstable DNA microsatellites

Presentation

I have been working on myotonic dystrophy and other related diseases caused by the abnormal expansion of unstable DNA repeats for over 20 years. My early research focused on the dissection of the molecular mechanisms of triplet repeat instability. Today, I conduct my investigation in the team headed by Geneviève Gourdon and Denis Furling. In this multi-layered team, I lead the “CNS group”, which I have established and managed for the previous 15 years. I am interested in the involvement and contribution of different brain cell types to the debilitating neurological symptoms described in myotonic dystrophy type 1 (DM1). Using animal and cellular models of the disease, as well as RNA sequencing, (phospho)proteomics and imaging techniques, it is our aim to decipher the impact of DM1 and associated RNA toxicity on the molecular and cellular pathways of neurons and glial cells, towards the development of new therapeutic strategies.

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Main publications

  1. Dincã, DM, Lallemant, L, González-Barriga, A, Cresto, N, Braz, SO, Sicot, G et al.. Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes. Nat Commun. 2022;13 (1):4091. doi: 10.1038/s41467-022-31774-7. PubMed PMID:35835787 PubMed Central PMC9283397.
  2. Potier, B, Lallemant, L, Parrot, S, Huguet-Lachon, A, Gourdon, G, Dutar, P et al.. DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus. Int J Mol Sci. 2022;23 (2):. doi: 10.3390/ijms23020592. PubMed PMID:35054778 PubMed Central PMC8775431.
  3. Parrot, S, Corscadden, A, Lallemant, L, Benyamine, H, Comte, JC, Huguet-Lachon, A et al.. Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis. ACS Chem Neurosci. 2022;13 (1):134-142. doi: 10.1021/acschemneuro.1c00634. PubMed PMID:34923816 .
  4. González-Barriga, A, Lallemant, L, Dincã, DM, Braz, SO, Polvèche, H, Magneron, P et al.. Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1. Front Cell Neurosci. 2021;15 :662035. doi: 10.3389/fncel.2021.662035. PubMed PMID:34025359 PubMed Central PMC8136287.
  5. Sicot, G, Servais, L, Dinca, DM, Leroy, A, Prigogine, C, Medja, F et al.. Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy. Cell Rep. 2017;19 (13):2718-2729. doi: 10.1016/j.celrep.2017.06.006. PubMed PMID:28658620 PubMed Central PMC8496958.
  6. Gomes-Pereira, M, Hilley, JD, Morales, F, Adam, B, James, HE, Monckton, DG et al.. Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion. Nucleic Acids Res. 2014;42 (11):7047-56. doi: 10.1093/nar/gku285. PubMed PMID:24860168 PubMed Central PMC4066746.
  7. Hernández-Hernández, O, Guiraud-Dogan, C, Sicot, G, Huguet, A, Luilier, S, Steidl, E et al.. Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Brain. 2013;136 (Pt 3):957-70. doi: 10.1093/brain/aws367. PubMed PMID:23404338 PubMed Central PMC3580270.
  8. Gomes-Pereira, M, Cooper, TA, Gourdon, G. Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med. 2011;17 (9):506-17. doi: 10.1016/j.molmed.2011.05.004. PubMed PMID:21724467 PubMed Central PMC3881009.
  9. Zu, T, Gibbens, B, Doty, NS, Gomes-Pereira, M, Huguet, A, Stone, MD et al.. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A. 2011;108 (1):260-5. doi: 10.1073/pnas.1013343108. PubMed PMID:21173221 PubMed Central PMC3017129.
  10. Gomes-Pereira, M, Foiry, L, Nicole, A, Huguet, A, Junien, C, Munnich, A et al.. CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet. 2007;3 (4):e52. doi: 10.1371/journal.pgen.0030052. PubMed PMID:17411343 PubMed Central PMC1847694.
  11. Gomes-Pereira, M, Fortune, MT, Ingram, L, McAbney, JP, Monckton, DG. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet. 2004;13 (16):1815-25. doi: 10.1093/hmg/ddh186. PubMed PMID:15198993 .
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