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Mitochondrial and Cardiovascular Physiopathology | UMR Inserm U1083 - CNRS 6015

Separated by coma

Medical Data & Technologies

Marc Ferre, Lecturer

marc.ferre @


Keywords : Bioinformatics, Molecular biology, Mitochondria, Databases, direct DNA sequencing


State of the art and objectives

Marc Ferré graduated in 2002 from a French Grande Ecole of Engineering (ESEO, and got his PhD in Bioinformatics in December 2009. Until August 2014, he was employed by the University Hospital of Angers (France) as bioinformatician through the formation of a national network coordinated by the French Department of Health (genetic study of neuromuscular and sensory pathologies, and mental retardation). He is currently Associate Professor in Molecular Biology and Bioinformatics at the Angers Medical School.

Main results from the last 5 years

  • He began his career by studying in silico the human mitochondrial proteome and developing a bioinformatics research strategy to identify new mitochondrial proteins on the basis of their prokaryotic origin. In parallel to this overall strategy of screening, he focused on the study of the OPA1 protein, one of the proteins associated with dominant optic atrophy, which is involved in mitochondrial fusion. He developed an international database listing the variations of OPA1 and its mutational spectrum. This tool was used as a complement to a multicentric clinical molecular diagnosis service involving thousands of patients with optic neuropathy. His work has led to the development of novel bioinformatic tools that contribute to a better understanding of mitochondrial pathophysiology.


  • He is currently focused on three axes: (1) designing and curating clinico-biological databases of genes involved in neuro-ophthalmological diseases (ACO2, DNM1L, MFN2, OPA1, RTN4IP1, SPG7), as a member of the Human Variome Project since 2012; (2) exceeding the current reading limits of the human mitochondrial genome sequence, via an innovative technique in which the complete double-stranded mitochondrial DNA is read directly without DNA amplification or incorporation of nucleotides; (3) analyzing the big data generated by the two previous axes, by , bioinformatics and biostatistical methods, and artificial intelligence.


 People involved

  • Angélique Caignard, MD (axis 1)
  • Bastien Le Roux, MD (axis 1)
  • Delphine Prunier-Mirebeau, MD, PhD (axes 1, 2, 3)
  • Floris Chabrun, MD (axes 1, 3)
  • Juan Manuel Chao de la Barca, MD, PhD (axes 1, 3)
  • Julien Cassereau, MD, PhD (axis 1)
  • Khadidja Boutellis, MD student (axis 1)
  • Pascal Reynier, MD, PhD (axes 1, 2, 3)
  • Patrizia Amati-Bonneau, MD (axis 1)
  • Thomas Foulonneau, MD student (axis 1)
  • Valérie Desquiret-Dumas, PhD (axis 2, equal contribution)
  • Xavier Dieu, MD (axes 1, 3)

 Main publications and patents from the last 5 years

  • Deep learning shows no morphological abnormalities in neutrophils in Alzheimer's disease. F. Chabrun, X. Dieu, N. Doudeau, J. Gautier, D. Luque-Paz, F. Genevieve, M. Ferre, D. Mirebeau-Prunier, C. Annweiler and P. Reynier. Alzheimers Dement (Amst), 2021.
  • A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies. J. M. Chao de la Barca, B. Rondet-Courbis, M. Ferre, J. Muller, A. Buisset, S. Leruez, G. Plubeau, T. Mace, L. Moureauzeau, S. Chupin, L. Tessier, O. Blanchet, G. Lenaers, V. Procaccio, D. Mirebeau-Prunier, G. Simard, P. Gohier, D. Milea and P. Reynier. J Clin Med, 2020.
  • OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. B. Le Roux, G. Lenaers, X. Zanlonghi, P. Amati-Bonneau, F. Chabrun, T. Foulonneau, A. Caignard, S. Leruez, P. Gohier, V. Procaccio, D. Milea, J. T. den Dunnen, P. Reynier and M. Ferre. Orphanet J Rare Dis, 2019.
    Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum. J. M. Ebran, L. Martin, Leftheriotis, N. Navasiolava, M. Ferre, D. Milea and S. Leruez. Graefes Arch Clin Exp Ophthalmol, 2018.
  • A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders. C. Bocca, J. Kouassi Nzoughet, S. Leruez, P. Amati-Bonneau, M. Ferre, M. S. Kane, C. Veyrat-Durebex, J. M. Chao de la Barca, A. Chevrollier, C. Homedan, C. Verny, D. Milea, V. Procaccio, G. Simard, D. Bonneau, G. Lenaers and P. Reynier. Invest Ophthalmol Vis Sci, 2018.
  • Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. J. L. Loo, S. Singhal, A. V. Rukmini, S. Tow, P. Amati-Bonneau, V. Procaccio, D. Bonneau, J. J. Gooley, P. Reynier, M. Ferre and D. Milea. Eye (Lond), 2017.
  • Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy. M. S. Kane, J. Alban, V. Desquiret-Dumas, N. Gueguen, L. Ishak, M. Ferre, P. Amati-Bonneau, V. Procaccio, D. Bonneau, G. Lenaers, P. Reynier and A. Chevrollier. J Cell Mol Med, 2017.
  • Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice. J. M. Chao de la Barca, G. Simard, E. Sarzi, T. Chaumette, G. Rousseau, S. Chupin, C. Gadras, L. Tessier, M. Ferre, A. Chevrollier, V. Desquiret-Dumas, N. Gueguen, S. Leruez, C. Verny, D. Milea, D. Bonneau, P. Amati-Bonneau, V. Procaccio, C. Hamel, G. Lenaers, P. Reynier and D. Prunier-Mirebeau. Invest Ophthalmol Vis Sci, 2017.
  • Neurotoxicity of Insecticides. J. Cassereau, M. Ferre, A. Chevrollier, P. Codron, C. Verny, C. Homedan, G. Lenaers, V. Procaccio, P. May-Panloup and P. Reynier. Curr Med Chem, 2017.
    The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress. J. M. Chao de la Barca, G. Simard, P. Amati-Bonneau, Z. Safiedeen, D. Prunier-Mirebeau, S. Chupin, C. Gadras, L. Tessier, N. Gueguen, A. Chevrollier, V. Desquiret-Dumas, M. Ferre, C. Bris, J. Kouassi Nzoughet, C. Bocca, S. Leruez, C. Verny, D. Milea, D. Bonneau, G. Lenaers, M. C. Martinez, V. Procaccio and P. Reynier. Brain, 2016.
  • OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology. J. M. Chao de la Barca, D. Prunier-Mirebeau, P. Amati-Bonneau, M. Ferre, E. Sarzi, C. Bris, S. Leruez, A. Chevrollier, V. Desquiret-Dumas, N. Gueguen, C. Verny, C. Hamel, D. Milea, V. Procaccio, D. Bonneau, G. Lenaers and P. Reynier. Neurobiol Dis, 2016.
  • Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. M. Ferre, A. Caignard, D. Milea, S. Leruez, J. Cassereau, A. Chevrollier, P. Amati-Bonneau, C. Verny, D. Bonneau, V. Procaccio and P. Reynier. Hum Mutat, 2015.


Acknowledgements for the financial supports

  • Kjer France
  • Ouvrir les Yeux
  • Retina France
  • Union nationale des Aveugles et Déficients visuels
  • Association contre les Maladies mitochondriales