A5005555201- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Adipose Tissue and Metabolism
- Genetic Neurodegenerative Diseases
- Genetic diversity and population structure
- Diet and metabolism studies
- RNA modifications and cancer
- Forensic and Genetic Research
- Nutrition and Health in Aging
- Cancer, Hypoxia, and Metabolism
- RNA and protein synthesis mechanisms
- Pancreatic function and diabetes
- Vitamin D Research Studies
- DNA and Nucleic Acid Chemistry
- Metabolomics and Mass Spectrometry Studies
- Yersinia bacterium, plague, ectoparasites research
- Lipid metabolism and biosynthesis
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Evolution and Genetic Dynamics
- Bacterial Genetics and Biotechnology
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Metabolism, Diabetes, and Cancer
- Stress Responses and Cortisol
- Protein Tyrosine Phosphatases
Université de Bordeaux
2001-2024
Centre National de la Recherche Scientifique
2016-2024
Laboratoire de Biogenèse Membranaire
2019-2022
Inserm
2003-2020
Institut de Biochimie et Génétique Cellulaires
2013-2017
Université Toulouse III - Paul Sabatier
2016
AMIS - Laboratoire d'anthropologie moléculaire et imagerie de synthèse
2016
Bordeaux Population Health
2012
University of California, Irvine
2008
The majority of mitochondrial DNA (mtDNA) mutations that cause human disease are mild to moderately deleterious, yet many random mtDNA would be expected severe. To determine the fate more severe mutations, we introduced mtDNAs containing two affect oxidative phosphorylation into female mouse germ line. ND6 mutation was selectively eliminated during oogenesis within four generations, whereas milder COI retained throughout multiple generations even though offspring consistently developed...
To investigate the physiological diversity in regulation and control of mitochondrial oxidative phosphorylation, we determined composition functional features respiratory chain muscle, heart, liver, kidney, brain. First, observed important variations content infrastructure via electron micrographs different tissue sections. Analyses enzyme by Western blot also showed large differences between tissues, good correlation with expression level transcription factor A activity citrate synthase. On...
Metabolic control analysis has often been used for quantitative studies of the regulation mitochondrial oxidative phosphorylations (OXPHOS). The main contribution this work to show that metabolic fluxes can be shared among several steps phosphorylation process, and distribution vary according steady state tissue. However, these do not whether observed variation in OXPHOS is due experimental conditions or nature mitochondria. To find out if there actually exists a tissue coefficients, we...
Significance The origins of the Malagasy raise questions about ancient connections between continents; moreover, because ancestors are fundamental to society, is also a heated topic around country, with numerous proposed hypotheses. This study provides comprehensive view genomic diversity (including maternal lineages, paternal and genome-wide data) based on sampling 257 villages across Madagascar. observed spatial patterns lead scenario recent sex-biased admixture Bantu Austronesian island....
<h3>Abstract</h3> <h3>Background</h3> Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients usually tested only for deletions and common mutations of mtDNA which account 5–40% cases, depending on the study. However, not known. <h3>Methods</h3> We analysed whole a cohort 743 patients suspected manifesting mitochondrial disease, after excluding mutations. Both heteroplasmic homoplasmic variants were identified using two complementary...
Skeletal muscle mitochondrial function is the biggest component of whole-body energy output. Mitochondrial production during exercise impaired in vitamin D-deficient subjects. In cultured myotubes, loss D receptor (VDR) decreases respiration rate and ATP from oxidative phosphorylation. We aimed to examine effects deficiency supplementation on expenditure old rats, mice, human To gain further insight into mechanisms involved, we used C2C12 cells transgenic mice with muscle-specific VDR...
The present study was designed to characterize mitochondrial adaptation chronic hypoxia (CH) in the rat heart. Mitochondrial energy metabolism differentially examined both left and right ventricles since CH selectively triggers pulmonary hypertension ventricular hypertrophy.Rats were exposed a hypobaric environment for 2 or 3 weeks compared with rats maintained normoxic environment. Oxidative capacity (oxygen consumption ATP synthesis) measured saponin-skinned fibers glutamate palmitoyl...
Some cases of maternally inherited isolated deafness are caused by mtDNA mutations, frequently following an exposure to aminoglycosides. Two mitochondrial genes have been clearly described as being affected mutations responsible for this pathology: the ribosomal RNA 12S gene and transfer serine (UCN) gene. A previous study identified several candidate novel localized in a variety genes, found patients with no treatment Five these characterized present study. These subunit ND1 complex I...
Previous studies in rat have demonstrated decreased number of mitochondria and uncoupling oxidative phosphorylation after administration glucocorticoids but at supraphysiological doses using synthetic glucocorticoids. To analyze the relationships between corticosterone levels (the natural glucocorticoid rat) muscle mitochondrial metabolism, Lewis Fischer 344 rats were bilaterally adrenalectomized implanted with different pellets (0, 12, 50, 100, 200 mg corticosterone). Rats bearing a pellet...
Metabolic control analysis has often been used for quantitative studies of the regulation mitochondrial oxidative phosphorylations (OXPHOS). The main contribution this work to show that metabolic fluxes can be shared among several steps phosphorylation process, and distribution vary according steady state tissue. However, these do not whether observed variation in OXPHOS is due experimental conditions or nature mitochondria. To find out if there actually exists a tissue coefficients, we...
R-lineage mitochondrial DNA represents over 90% of the European population and is significantly present all around planet (North Africa, Asia, Oceania, America). This lineage played a major role in migration “out Africa” colonization Europe. In order to determine an accurate dating R its sublineages, we analyzed 1173 individuals complete mtDNA sequences from Mitomap. analysis revealed new coalescence age for at 54.500 years, as well several limitations standard methods, likely lead false...
The A3243G mutation in the tRNALeu gene (UUR), is one of most common pathogenic mitochondrial DNA (mtDNA) mutations France, and associated with highly variable heterogeneous disease phenotypes. To define relationships between mtDNA backgrounds, we determined haplogroup affiliation 142 unrelated French patients - diagnosed as carriers by control-region sequencing RFLP survey their mtDNAs.The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that 3243...
Cellular energy homeostasy relies on mitochondrial plasticity, the molecular determinants of which are multiple. Yet, relative contribution and possible cooperation between biogenesis morphogenesis to cellular remains elusive. Here we analyzed adaptative capacity content dynamics in muscle biopsies patients with a complex IV defect, skin fibroblasts challenged inhibition.We observed biphasic variation upon inhibition fibroblasts. Adjustment for respiratory maintenance was blocked by using...
Scope One strategy to manage malnutrition in older patients is increase protein and energy intake. Here, we evaluate the influence of quality during refeeding on improvement muscle metabolism. Methods results Twenty‐month‐old male rats ( n = 40) were fed 50% their spontaneous intake for 12 weeks induce malnutrition, then refed ad libitum with a standard diet enriched casein or soluble milk proteins (22%) 4 weeks. A 13C‐valine was infused measure synthesis expression MuRF1, MAFbx measured...
Abstract Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant atrophy (ADOA) are the most frequent forms of neuropathies. LHON is associated with mitochondrial DNA (mtDNA) mutations whereas ADOA mainly due to in OPA1 gene that encodes a protein involved inner membrane remodeling. A striking influence mtDNA haplogroup J on expression has been demonstrated it recently suggested this could also expression. In study, we have tested backgrounds mutations. Methods To define...
Despite extensive studies on oligonucleotide-forming triple helices, which were discovered in 1957, their possible relevance the initiation of DNA replication remains unknown. Using sequences forming we have developed a polymerisation assay by using hairpin templates with 3′ dideoxynucleotide end and an unpaired 5′-end extension to be replicated. The T7 polymerase successfully elongated nucleotides expected size template from primers helices composed 9–14 deoxyguanosine-rich residues....
A non-synonymous mtDNA mutation, m.3395A > G, which changes tyrosine in position 30 to cysteine p.MT-ND1, was found several patients with a wide range of clinical phenotypes such as deafness, diabetes and cerebellar syndrome but no Leber's hereditary optic neuropathy. Although this mutation has already been described, its pathogenicity not demonstrated. Here, it isolated for the first time, allowing study investigate pathogenicity. To do so, we constructed cybrid cell lines carried out...