Dissertations / Theses on the topic 'Maladies neuromusculaires – Génétique'
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Maurer, Marie. "Caractérisation génétique et fonctionnelle d'affections canines, modèles de maladies neuromusculaires." Paris 6, 2010. http://www.theses.fr/2010PA066483.
Full textMouisel, Etienne. "Individualisation de l’entraînement physique chez la souris : influence du fonds génétique sur l’adaptation musculaire, applications aux maladies du motoneurone." Evry-Val d'Essonne, 2007. http://www.biblio.univ-evry.fr/theses/2007/2007EVRY0011.pdf.
Full textThe remarkable plasticity of skeletal muscle in response to physiological stress or diseases leads to consider physical exercise as a therapeutically approach. After validation of motor capacity model (Critical Speed, CS) in healthy mice, we used this index to define a short individualized training protocol. Surprisingly, the results showed improvements of CS and oxidative muscular capacity, both parameters being dependent on the genetic background. These data lead us to suggest that exercise could be regarded as a therapeutically approach in mouse models of neuromuscular disorders and in particular motor neuron diseases. After validating the CS as a reliable parameter to evaluate the motor capacities of mouse models of hereditary spastic paraplegia, spinal muscular atrophy and amyotrophic lateral sclerosis (ALS), we have shown that physical training was able to delay motor defect in a mouse model of ALS. This last observation opens exciting therapeutic prospects
Bomont, Pascale. "Localisation génétique de deux nouvelles formes d'ataxie autosomique récessive : Identification du gène de la neuropathie à axones géants et étude de la gigaxonine." Université Louis Pasteur (Strasbourg) (1971-2008), 2002. http://www.theses.fr/2002STR13117.
Full textFocused then on the study of a severe neurodegenerative disorder, called Giant Axonal Neuropathy (GAN), for which the locus has been identified on 16q24. 1. GAN corresponds to a generalized disorganization of the intermediate filaments network (IF), that, together with the microfilament (MF) and microtubule (MT) networks, constitute the cellular cytoskeleton. Indeed, abnormal accumulation of different classes of IFs has been reported in different cell types, including neurofilaments in the axons of patients. I participated to the reduction of the interval of interest and identified the GAN gene, by a bioinformatic approach, based on the analysis of the newly available sequences generated by the Human Genome Sequencing Project. The GAN gene encodes a protein we named gigaxonin, for which we identified 22 distinct mutations in patients. Gigaxonin contains BTB and Kelch repeat domains, but presents only low amino acid identity with other BTB/Kelch proteins. In a over-expression system, gigaxonin is a cytoplasmic protein that does not colocalize with any of the cytoskeletal networks. The study of primary fibroblasts derived from skin biopsies of patients, that present abnormal aggregation of the vimentin network, allowed to demonstrate that this disorganization i) affects only a weak proportion of the cells ; ii) is aggravated in non- dividing cells. Although MTs network is not altered in GAN fibroblasts, we found i) a correlation between the position of the aggregates and the MT organizing centers (MTOCs); ii) an increase of vimentin destabilization in the absence of MTs. This suggests that gigaxonin could be implicated in the cross-talk between the MTs and IFs networks
Hammer, Caroline. "Implications de l'épissage des ARNpré-messagers dans la pathogenèse des dystrophies myotoniques." Strasbourg, 2009. http://www.theses.fr/2009STRA6136.
Full textMyotonic dystrophies (DM) are the most common muscle dystrophies in adults. DM patients display a wide range of features, but there is currently no available cure to treat all of them. DM are caused by aberrant nuclear aggregates made of RNAs enriched in CUG repeats (DM1 and congenital forms) or CCUG repeats (DM2 form, the less severe one). These ggregates sequester the MBNL1 splicing factor, thus leading to an aberrant splicing of specific exons, ultimatly resulting in specific symptoms (myotonia, insulin resistance). I identified a novel misspliced event (aberrant splicing of Bin1 exon 11) in muscle cells of DM patients using exon arrays. Our functionnal and pathological studies suggest that the decrease in exon 11 expression is a primary event in the DM pathogenesis and may contribute to muscle weakness. I identified two novel protein components of the CCUG aggregates, the splicing factors Fox1 and Fox2. We propose an original model according to which Fox1 and Fox2 co-localizing with those aggregates may decrease MBNL1 sequestration. Thus, Fox1 and Fox2 would help to diminish the degree of splicing alterations of targets regulated by MBNL1, and would contribute to explain the lesser severity of DM2. Finally, I set up a cellular system mimicking DM1 that reproduces cardiac troponin T exon 5 missplicing observed in DM patients. This model may be useful to a high-throuput screening of chemical compounds aimed at identifying putative therapeutic molecules for DM patients
Vaeze, Chantal. "Le pied creux de l'enfant et la maladie de Charcot-Marie-Tooth : apport au diagnostic différentiel." Bordeaux 2, 1989. http://www.theses.fr/1989BOR25207.
Full textBuono, Suzie. "In vivo studies and therapeutic approaches in neuromuscular disorders : targeting dynamin 2 as a novel therapeutic strategy and support for clinical development." Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ016.
Full textCentronuclear myopathies (CNMs) are a group of congenital myopathies for which there is no treatment currently available. They are characterized by muscle weakness, atrophy of muscle fibers, and the presence of central nuclei in skeletal muscle fibers. Several forms of CNMs have been described. X-linked centronuclear myopathy (XLCNM), caused by mutations in the MTM1 gene encoding for myotubularin 1 (MTM1), is the most severe form. On the other hand, autosomal dominant centronuclear myopathy (ADCNM), is mainly caused by mutations in the DNM2 gene encoding for dynamin 2 (DNM2). My objectives were (1) to better understand the role of DNM2 in skeletal muscle and the impact of mutations, (2) to develop a therapeutic strategy that could be applicable in humans to treat XLCNM and ADCNM patients by reducing DNM2, and (3) to participate in projects for clinical development. These studies have shown that reducing DNM2 using antisense oligonucleotides or adeno-associated viruses improved the CNM phenotype in both mouse models (XLCNM and ADCNM). DNM2 has been validated as a therapeutic target, and the data led to the creation of Dynacure in 2016 in order to launch a clinical trial. In addition, another study identified myostatin as a blood biomarker that could be used to monitor and study the disease's status and applied in clinical trials
Fabbrizio, Eric. "Les molécules de la famille dystrophine : identifications et approches fonctionnelles." Montpellier 1, 1993. http://www.theses.fr/1993MON1T029.
Full textAubourg, Pauline. "Etude par clonage positionnel de deux maladies neuromusculaires rares : la myopathie liée à l'X avec excès d'autophagie (XMEA) et une fibrose congénitale des muscles extra-oculaires (CFEOM)." Aix-Marseille 2, 2004. http://www.theses.fr/2004AIX20667.
Full textThe aim of this work was to determine the gene involved in two rare neuromuscular diseases : the X-linked myopathy with excessive autophagy (XMEA) and the congenital fibrosis of extraocular muscles type 3 (CFEOM3). XMEA is transmitted as an X-linked recessive trait and is characterised by a slow progressive weakness of proximal muscles, affecting males. It is located on Xq28 chromosome. Towards identifie the gene, we used a candidate gene approach based on structural changes observed in myofibers. None of the 38 genes studied allowed to determine the critical gene. As well, no rearrangement in the MAGEA genes cluster could be identified. However, we have considerably reduced the number of candidate genes. Additionally, a skewed X-inactivation pattern was detected and suggested that the gene involved in this condition could be ubiquitously expressed rather than having a muscle specific expression. CFEOM3 is an autosomal dominant inherited disease, characterised by a limitation of vertically gaze and ptosis. This condition belongs to the recently designed group of congenital cranial dysinnervation disorders (CCDDs). Two loci of CFEOM3 were known, on chromosome 16 and 12 (with KIF21A mutations). Here, we cloned the breakpoints of a balanced reciprocal translocation t(2;13) in a three generations family, and defined a new CFEOM3 locus (FEOM4) on 13q12. 11. A transcript whose the intron contained several blocks of conserved non coding sequences was interrupted by this breakpoint. The functional importance of these sequences remains to be identified. Meanwhile, the characterisation of this novel CFEOM3 locus will allow to test the genetic segregation at this locus, in families previously shown to be unlinked to any of the known loci. Furthermore, the study of two chromosomal rearrangements, involved in two families of Moebius syndrome type 1 (MBS1) on 13q12 will define if MBS1 and CFEOM3 are allelic or not
Roques, Isabelle. "Etude de vingt observations d'amyotrophies spinales infantiles : aspects cliniques et génétiques." Bordeaux 2, 1999. http://www.theses.fr/1999BOR23019.
Full textCros, Nathalie. "Modifications de l'expression génique dans l'atrophie musculaire fonctionnelle." Montpellier 2, 1999. http://www.theses.fr/1999MON20109.
Full textDany, Antoine. "Développement de mesures rapportées par les patients atteints de maladies neuromusculaires génétiques." Thesis, Reims, 2016. http://www.theses.fr/2016REIMS013/document.
Full textDue to their rarity genetic neuromuscular diseases (NMDs) have been neglected for a long time. Currently, there are few treatments available for NMDs and they are still symptomatic. The care is thus focus on the support and the prevention of health-related functional limitations. Patient reported outcome measures enable assessing patients' perceived benefit in medical care units. Patient-reported outcome measures are important indicators to assess the efficiency of medical care or rehabilitation programs. Only generic tools were available to measure quality of life for french adult patients with a NMD. This PhD work was carried out using data gathered from eight French NMD reference centers (Angers, Créteil, Garches, Lille, Nancy, Nice, Paris myologie, Reims) since 2006. It was realised into three successive phases. Phase I: a mainly qualitative analysis of verbal interactions between participants of five focus groups composed of patients with a NMD enabled the construction of an item bank. Phase II: a mainly quantitative exploratory analysis enabled to select the items from the bank in order to construct a new questionnaire: the QoL-NMD. Phase III: a purely quantitative confirmatory analysis on an independant sample enabled to verrify the Qol-NMD psychometric properties validity
Hovhannisyan, Yeranuhi. "Modélisation cardiaque des myopathies myofibrillaires à l'aide de cellules souches pluripotentes induites pour explorer la pathogenèse cardiaque Polyacrylamide Hydrogels with Rigidity-Independent Surface Chemistry Show Limited Long-Term Maintenance of Pluripotency of Human Induced Pluripotent Stem Cells on Soft Substrates Modéliser la myopathie myofibrillaire pour élucider la pathogenèse cardiaque Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants Desmin prevents muscle wasting, exaggerated weakness and fragility, and fatigue in dystrophic mdx mouse Effects of the selective inhibition of proteasome caspase-like activity by CLi a derivative of nor-cerpegin in dystrophic mdx mice." Thesis, Sorbonne université, 2020. http://www.theses.fr/2020SORUS095.
Full textMyofibrillar Myopathy is a slowly progressive neuromuscular disease characterized by severe muscular disorders caused by mutations in the gene encoded cytoskeletal proteins. One of the genes described in connection with the development of MFM is DES. Mutations in the desmin gene lead to skeletal and cardiac muscles myopathies. However, the cardiac pathological consequences caused by them remain poorly understood. My objective is to create an in vitro human stem cell model of MFM to specifically investigate the role of patient-specific mutations in desmin on cardiac lineage development and function. To achieve that objective, in collaboration with Drs. Behin and K. Wahbi and Phenocell, we generate patient-specific iPSC from peripheral blood cells of the patient suffering severel form of desmin-deficient cardiomyopathy. The generated iPSC lines carrying DES gene mutations enable a powerful examination of the role of desmin mutation on cardiomyocyte specification and function. Bioenergetic, structural, and contractile function will be assessed in a single cell. In conclusion, it should be noted that desmin mutations lead to a disorganization of sarcomere structures in cardiomyocytes and to a perturbation of mitochondrial protein expression. This leads to a distortion of functions in the mitochondria. These data facilitate the understanding of the molecular pathway underlying the development of desmin-related myopathy. And the system we have created could also allow us to better evaluate the correlation between the desmin genotype and phenotype in terms of effect on the heart
Gallais, Benjamin. "Impact des facteurs génétiques, fonctionnels, psychopathologiques et neuropsychologiques sur l’adaptation à la dystrophie myotonique de Steinert." Paris 8, 2010. http://octaviana.fr/document/165048018#?c=0&m=0&s=0&cv=0.
Full textBackground: adaptation to a chronically and progressive disease is such a complex phenomena, which require a multidimensional approach. We believe that Steinert myotonic dystrophy (DM1), as a pathology involving physiological and neurological modifications as well as social deprivation, represents a suitable model for testing an integrative approach of disease adjustment. Method: we assessed the role and the impact of genetic, clinical, cognitive, emotional, affective and social factors on quality of life, in patients with MD1 (41), facioscapulo-humeral dystrophy (FSHD:19) and 20 population controls. Results: DM1 patients had more frequent and more intense apathy than FSHD patients and controls. About 22% of DM1 patients met current major depressive disorder criteria. As a group, DM1 patients had a mild to moderate depression. The depression severity was significantly correlated to functional impairment, emotion-focused coping strategies, but was independent from CTG repeats and neuropsychological assessment. Thus, depression, in DM1, seems to be a “reactional” process. Within the DM1 group, patients with, or intellectual or executive functions pathological scores, used significantly more emotion-focused coping strategies. These results emphasize the link between emotion and cognition into the adaptive process. Conclusion: our results highlight the importance of working on coping strategies, among stress management, in neuromuscular disease. Besides, it is relevant that family helpers and professionals must take a special care on disease evolution critical periods
Gallais, Benjamin. "IMPACT DES FACTEURS GÉNÉTIQUES, FONCTIONNELS, PSYCHOPATHOLOGIQUES ET NEUROPSYCHOLOGIQUES DANS L'ADAPTATION A LA DYSTROPHIE MYOTONIQUE DE STEINERT." Phd thesis, Université Paris VIII Vincennes-Saint Denis, 2010. http://tel.archives-ouvertes.fr/tel-00553480.
Full textBriens, Mickaël. "Rôle de la sélénoprotéine N dans les réseaux de régulation rédox : études physiologique et transcriptomique." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ038/document.
Full textOxidative stress response plays a major function in the adaptation of biological systems. Selenoproteins have a main role in oxidative stress control. Mutations in the gene coding for the selenoprotein N (SelN) cause different muscular dystrophies in Humans but the molecular function of SelN is still unknown. The main objective of my PhD was to determine the molecular function of SelN, and its role in Redox regulation mechanisms. The Sepn1-/- mouse model was a central tool to reach those objectives.The key results revealed a higher sensibility of Sepn1-/- mice to specific oxidative or reticular stress inducers. Moreover, the Sepn1-/- mouse model was characterized by high throughput sequencing, comparing gene expression of paravertebral muscle of Sepn1-/- and wild type animals. Results showed activation of 580 genes in Sepn1-/- mice despite the absence of muscular phenotype in those conditions. Activated genes are coding for secreted proteins and indicated the activation of several metabolic pathways. Those results participated to Sel N function determination in the endoplasmic reticulum