Studies on cellular models:
We study the effect of the metabolites produced by the muscle contraction on the muscle itself (autocrine and paracrine effects). For decades, lactic acid has been considered to have adverse effects on muscle function. On muscle fibers of rat muscles, we showed that the lactate ion, independently of the H+ proton, increased the excitability of the muscle fiber by its action on fast sodium channels (NaV).
We investigate the respiratory function and the exercise capacities of patients with myalgia or intolerant to exercise, addressed for the suspicion of metabolic myopathy in the Lung Function Testing Unit in the CHRU of Brest. The university hospital of Brest is one of the site of the Reference Center for neuromuscular diseases Atlantique Occitanie Caraïbe (AOC Center). Our work focuses on the characterization of the metabolic phenotype at exercise. Exercise tests (aerobic test on cycloergometer, grip test) are used as provocation tests to uncover enzymatic deficiencies by increasing "metabolic disorders". A decision algorithm for the non-invasive diagnosis of metabolic myopathies was developed from the metabolites produced during exercise (lactate, pyruvate, ammonium). For myalgic patients with no etiological diagnosis, the working axes are to identify new candidate genes (collaborations with Cédric Le Maréchal-INSERM-UMR 1078 Brest, Jocelyn Laporte-Institute of Genetics and Molecular Biology-CNRS Illkirch, Sarah Ball-Biochemistry Department-NHS Birmingham, UK)
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