A5027313965- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Metabolism and Genetic Disorders
- Metabolomics and Mass Spectrometry Studies
- Genetic Neurodegenerative Diseases
- Reproductive Biology and Fertility
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Birth, Development, and Health
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Protein Tyrosine Phosphatases
- Diet and metabolism studies
- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Pregnancy and preeclampsia studies
- Autophagy in Disease and Therapy
- Amyotrophic Lateral Sclerosis Research
- Cardiac, Anesthesia and Surgical Outcomes
- Neurological diseases and metabolism
- Glaucoma and retinal disorders
- Cancer, Hypoxia, and Metabolism
- Hemoglobinopathies and Related Disorders
- Anesthesia and Pain Management
- Cardiac Ischemia and Reperfusion
- RNA and protein synthesis mechanisms
Université d'Angers
2016-2025
Inserm
2016-2025
Centre National de la Recherche Scientifique
2016-2025
Centre Hospitalier Universitaire d'Angers
2015-2024
McGill University
2016-2024
Jewish General Hospital
2016-2024
Laboratoire de Biochimie
1993-2024
York University
2023
University of Calgary
2021-2023
Australian National University
2023
Background It has been reported that mu-opioid receptor activation leads to a sustained increase in glutamate synaptic effectiveness at the N-methyl-D-aspartate (NMDA) level, system associated with central hypersensitivity pain. One hypothesis is postoperative pain may result partly from of NMDA facilitatory processes induced by opiate treatment per se. The authors tested here analgesic fentanyl for eliciting delayed enhancement sensitivity. Methods consequences four bolus injections (every...
Mutations in OPA1, a dynamin-related GTPase involved mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations the OPA1 gene can also be responsible for syndromic form DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external...
Mitochondrial DNA content varies considerably in oocytes, even when collected from the same patient. In present study, real-time quantitative polymerase chain reaction analysis of 113 unfertilized oocytes obtained 43 patients revealed an average 193 000 (range: 20 to 598 000) mitochondrial genomes per cell. We compared several groups investigate relationship between and fertilizability. The copy number was significantly lower cohorts suffering fertilization failure with a normal rate...
Additional neurological features have recently been described in seven families transmitting pathogenic mutations OPA1, the most common cause of autosomal dominant optic atrophy. However, frequency these syndromal 'dominant atrophy plus' variants and extent involvement not established. In this large multi-centre study 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular complications are OPA1 disease, affect up to 20% all mutational carriers. Bilateral...
Mutations in nuclear genes involved mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated with the secondary accumulation multiple mtDNA deletions affected tissues. The majority families autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutations encoding one three well-characterized proteins—polγ, Twinkle or Ant 1. Here we show that heterozygous mis-sense mutation OPA1 leads to skeletal muscle and mosaic defect cytochrome c oxidase...
Mitochondrial biogenesis and bioenergetics play an important role in oocyte maturation embryo development. We have investigated the relationship between defective mitochondrial lack of maturity observed during IVF procedures with patients suffering from ovarian dystrophy insufficiency.We used real-time quantitative PCR to quantify DNA (mtDNA) 116 oocytes obtained 47 women undergoing ICSI procedure. compared mtDNA content a normal profile that found average 256,000 +/- 213,000 genomes per...
Eukaryotic cells harbor a small multiploid mitochondrial genome, organized in nucleoids spread within the network. Maintenance and distribution of DNA (mtDNA) are essential for energy metabolism, lineage primordial germ cells, to prevent mtDNA instability, which leads many debilitating human diseases. Mounting evidence suggests that actors network dynamics, among is intramitochondrial dynamin OPA1, might be involved these processes. Here, using siRNAs specific OPA1 alternate spliced exons,...
Abstract Background Recent work has shown that mitochondrial biogenesis and functions are critical determinants of embryonic development. However, the expression factors controlling in early embryogenesis received little attention so far. Methods We used real-time quantitative PCR to quantify DNA (mtDNA) bovine oocytes various stages vitro produced embryos. To investigate molecular mechanisms responsible for replication transcriptional activation mtDNA, we quantified mRNA corresponding...
We report the results of molecular screening in 980 patients carried out as part their work-up for suspected hereditary optic neuropathies. All were investigated Leber's neuropathy (LHON) and autosomal dominant atrophy (ADOA), by searching ten primary LHON-causing mtDNA mutations examining entire coding sequences OPA1 OPA3 genes, two genes currently identified ADOA. Molecular defects 440 (45% screened patients). Among these, 295 (67%) had an mutation, 131 (30%) 14 (3%), belonging to three...
Abstract Objective Mutations of the mitofusin 2 gene (MFN2) may account for at least a third cases Charcot–Marie–Tooth disease type (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2 ‐related CMT2A. Methods Mitochondrial network morphology and metabolism were studied cultures skin fibroblasts obtained from four CMT2A patients harboring novel missense mutations gene. Results Although appeared morphologically unaltered, there was significant defect coupling associated...
Abstract Amyotrophic lateral sclerosis (ALS), the commonest adult-onset motor neuron disorder, is characterized by a survival span of only 2–5 years after onset. Relevant biomarkers or specific metabolic signatures would provide powerful tools for management ALS. The main objective this study was to investigate cerebrospinal fluid (CSF) lipidomic signature ALS patients mass spectrometry evaluate diagnostic and predictive values profile. We showed that (n = 40) displayed highly significant...
SUMMARY ANSWERMitochondrial biogenesis in cumulus cells may be linked with impaired oocyte competence patients DOR.