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Marc Ferré graduated in 2002 from a French Grande Ecole of Engineering ([ESEO]( and in December 2009 a PhD in Bioinformatics. 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. He is also a staff-member to the research team Mitolab ([]( of the UMR CNRS 6015/INSERM 1083 — CNRS, The Centre National de la Recherche Scientifique (National Center for Scientific Research), is a government-funded research organization, under the administrative authority of France's Ministry of Research; INSERM, the Institut national de la santé et de la recherche médicale (French National Institute of Health and Medical Research), is a public scientific and technological institute which operates under the joint authority of the French Ministry of Health and French Ministry of Research. Research activity of Dr. Ferré has been conducted in the field of mitochondrial diseases. 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 autosomal dominant optic atrophy, which is involved in mitochondrial fusion. Opa1, a dynamin GTPase, is involved in the remodeling of the inner mitochondrial membrane, apoptosis, maintenance of mitochondrial DNA, and energy metabolism. He finally developed an international database listing the variations of Opa1 so as to characterize its mutational spectrum. This tool was used as a complement to a multicentric clinical study involving thousands of patients with optic neuropathy. His work has led to the development of novel bioinformatics tools that should contribute to a better understanding of mitochondrial pathophysiology. He is currently focused on three axes: (1) designing and the 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 biostatistical methods, bioinformatics and artificial intelligence.


NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Benjamin Billiet , Patrizia Amati-Bonneau , Valérie Desquiret-Dumas , Khadidja Guehlouz , Dan Milea
Human Mutation, 2022, 43 (2), pp.128-142. ⟨10.1002/humu.24305⟩
Journal articles hal-03861098v1

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher , Valérie Desquiret-Dumas , Majida Charif , Marc Ferré , Philippe Gohier
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac395⟩
Journal articles hal-03861072v1

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

Khadidja Guehlouz , Thomas Foulonneau , Patrizia Amati-Bonneau , Majida Charif , Estelle Colin
Scientific Data , 2021, 8 (1), pp.205. ⟨10.1038/s41597-021-00984-x⟩
Journal articles hal-03861114v1
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A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

Juan Manuel Chao de La Barca , Barnabé Rondet-Courbis , Marc Ferré , Jeanne Muller , Adrien Buisset
Journal of Clinical Medicine, 2020, 9 (3), pp.631. ⟨10.3390/jcm9030631⟩
Journal articles hal-02543202v1

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1187-1⟩
Journal articles hal-02388214v1

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun
Human Mutation, 2019, 40 (12), pp.2430-2443. ⟨10.1002/humu.23885⟩
Journal articles hal-02975361v1

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Cinzia Bocca , Judith Nzoughet , Stéphanie Leruez , Patrizia Amati-Bonneau , Marc Ferré
Investigative Ophthalmology & Visual Science, 2018, 59, pp.185-195. ⟨10.1167/iovs.17-23027⟩
Journal articles hal-01964499v1

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.

J Ebran , Ludovic Martin , Nastassia Navasiolava , Marc Ferré , Dan Milea
Graefe's Archive for Clinical and Experimental Ophthalmology, 2018, 256, pp.699-707
Journal articles hal-02104309v1

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

J Loo , S Singhal , A Rukmini , S Tow , Patrizia Amati-Bonneau
2017, 31, pp.475-480. ⟨10.1038/eye.2016.255⟩
Journal articles hal-02104157v1

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice

Juan Manuel Chao de La Barca , Gilles Simard , Emmanuelle Sarzi , Tanguy Chaumette , Guillaume Rousseau
Investigative Ophthalmology & Visual Science, 2017, 58 (2), pp.812-820. ⟨10.1167/iovs.16-21116⟩
Journal articles hal-01784466v1

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

Juan Manuel Chao de La Barca , Gilles Simard , Patrizia Amati-Bonneau , Zainab Safiedeen , Delphine Mirebeau-Prunier
Brain - A Journal of Neurology , 2016, 139 (11), pp.2864-2876. ⟨10.1093/brain/aww222⟩
Journal articles hal-02103390v1

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Juan Manuel Chao de La Barca , Delphine Mirebeau-Prunier , Patrizia Amati-Bonneau , Marc Ferré , Emmanuelle Sarzi
Neurobiology of Disease, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩
Journal articles hal-01392230v1

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Marc Ferré , Patrizia Amati-Bonneau , C. Moriniere , Véronique Ferré-L’hotellier , S. Lemerle
Journal of Assisted Reproduction and Genetics, 2014, 31 (2), pp.221 - 7. ⟨10.1007/s10815-013-0141-8⟩
Journal articles hal-03403940v1

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin , Huynh Cong , G. Mollet , Agnés Guichet , O. Gribouval
American Journal of Human Genetics, 2014, 95 (6), pp.637 - 48. ⟨10.1016/j.ajhg.2014.10.011⟩
Journal articles hal-03404021v1

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Dominique Bonneau , Estelle Colin , Florine Oca , Marc Ferré , Arnaud Chevrollier
Brain - A Journal of Neurology , 2014, Non spécifié. ⟨10.1093/brain/awu184⟩
Journal articles hal-03403967v1

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

Valérie Desquiret-Dumas , Naïg Gueguen , Géraldine Leman , Stephanie Baron , Valerie Nivet-Antoine
Journal of Biological Chemistry, 2013, 288 (51), pp.36662 - 75. ⟨10.1074/jbc.M113.466490⟩
Journal articles hal-03404098v1
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Is ABCC6 a genuine mitochondrial protein?

Marc Ferré , Pascal Reynier , Arnaud Chevrollier , Delphine Prunier-Mirebeau , Georges Lefthériotis
BMC Research Notes, 2013, 6 (1), pp.427. ⟨10.1186/1756-0500-6-427⟩
Journal articles inserm-00877607v1

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth , Vincent Procaccio , Anne-Sophie Lebre , Claude Jardel , A. Chaussenot
Journal of Medical Genetics, 2013, 50 (10), pp.704 - 14. ⟨10.1136/jmedgenet-2013-101604⟩
Journal articles hal-03404064v1

Sensorineural hearing loss in OPA1-linked disorders

Stéphanie Leruez , Dan Milea , Sabine Defoort-Dhellemmes , Estelle Colin , M. Crochet
Brain - A Journal of Neurology , 2013, 136 (Pt 7), Non spécifié. ⟨10.1093/brain/aws340⟩
Journal articles hal-03404095v1

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

Arnaud Chevrollier , Julien Cassereau , Marc Ferré , Jennifer Alban , Valérie Desquiret-Dumas
International journal of biochemistry & cell biology, 2012, 44 (6), pp.980 - 8. ⟨10.1016/j.biocel.2012.03.006⟩
Journal articles hal-03404105v1
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Julien Cassereau , Arnaud Chevrollier , Dominique Bonneau , Christophe Verny , Vincent Procaccio
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.87. ⟨10.1186/1750-1172-6-87⟩
Journal articles inserm-00683147v1
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Claire Angebault , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Virginie Guillet
BMC Research Notes, 2011, 4 (1), pp.557. ⟨10.1186/1756-0500-4-557⟩
Journal articles inserm-00673659v1

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

Virginie Guillet , Naïg Gueguen , Christophe Verny , Marc Ferré , Chadi Homedan
neurogenetics, 2010, 11 (1), pp.127 - 133. ⟨10.1007/s10048-009-0207-z⟩
Journal articles hal-03406912v1

Les atrophies optiques héréditaires

Clarisse Scherer , Vincent Procaccio , Marc Ferré , Virginie Guillet , Pascal Reynier
Revue Neurologique, 2010, 166 (12), pp.959 - 65. ⟨10.1016/j.neurol.2010.07.033⟩
Journal articles hal-03408477v1

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Adriana Prundean
Mitochondrion, 2010, 11 (1), pp.70 - 75. ⟨10.1016/j.mito.2010.07.006⟩
Journal articles hal-03408492v1

OPA1-associated disorders: Phenotypes and pathophysiology

Patrizia Amati-Bonneau , Dan Milea , Dominique Bonneau , Arnaud Chevrollier , Marc Ferré
International Journal of Biochemistry and Cell Biology, 2009, 41 (10), pp.1855 - 1865. ⟨10.1016/j.biocel.2009.04.012⟩
Journal articles hal-03406909v1

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

Yannick Nochez , Sophie Arsene , Naïg Gueguen , Arnaud Chevrollier , Marc Ferré
Molecular Vision, 2009, 15, pp.598 - 608
Journal articles hal-03406919v1

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau , Arnaud Chevrollier , Naïg Gueguen , Marie-Claire Malinge , Franck Letournel
neurogenetics, 2009, 10 (2), pp.145 - 150. ⟨10.1007/s10048-008-0166-9⟩
Journal articles hal-03403277v1
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OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Denis Pierron , Marc Ferré , Christophe Rocher , Arnaud Chevrollier , Pascal Murail
BMC Medical Genetics, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩
Journal articles inserm-00663623v1

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Marc Ferré , Dominique Bonneau , Dan Milea , Arnaud Chevrollier , Christophe Verny
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
Journal articles inserm-00372261v1

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Arnaud Chevrollier , Virginie Guillet , Dominique Loiseau , Naïg Gueguen , Marie-Anne Pou de Crescenzo
Annals of Neurology, 2008, 63 (6), pp.794-8. ⟨10.1002/ana.21385⟩
Journal articles hal-00282865v1
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Reversible optic neuropathy with OPA1 exon 5b mutation.

Karen Cornille , Dan Milea , Patrizia Amati-Bonneau , Vincent Procaccio , Lydie Zazoun
Annals of Neurology, 2008, 63 (5), pp.667-71. ⟨10.1002/ana.21376⟩
Journal articles inserm-00287509v1