We are proud of Caroline Rooryck-Thambo and Giovianni Bénard who have been promoted to Hospital-Practitioner/Professor of the University of Bordeaux (PU-PH) and CNRS Director of Research, respectively. This highlights the great scientific and clinical achievements of these two members of the MRGM.
The baker’s yeast Saccharomyces cerevisiae can be used to model human diseases including rare diseases involving mitochondria. This model allows not only to find drugs (pharmacological treatment) and genes (gene therapy) but also to better understand the molecular mechanisms of theses diseases.
More info at: Hereditary Spastic Paraplegia Type 7
Lavie et al. show that turnover of several key proteins is dependent upon the ubiquitin proteasome system (UPS). Notably, degradation of subunit A of the succinate dehydrogenase (SDHA) through this mechanism modify mitochondrial energy metabolism. These findings demonstrate that mitochondrial internal functions are also regulated by UPS. These results are published in Cell Reports (Lavie J et al. 2018) DOI: https://doi.org/10.1016/j.celrep.2018.05.013
(A) Sub-mitochondrial localization of K48 conjugates analyzed by western blot. Sub-mitochondrial compartments (OMM, IMM, and matrix [Mx]) were obtained from HeLa cells treated with vehicle, MG132, or epoxomicin. MFN2, ATP5A, and ATAD3A are respective markers of the OMM, Mx, and IMM.
(B) Effect of MG132 on the accumulation of Myc-SDHA, Myc-SDHAK179R (K179), Myc-SDHAK541R (K541), and Myc-SDHAK179R,K541R analyzed by western blot. HeLa cells were labeled as no transfection (NT) or transfected with mutant or WT Myc-SDHA and treated with MG132 (8 hr). Expression of ectopic SDHA was revealed using an anti-Myc antibody.
(C) Levels of different cellular metabolites analyzed in HeLa cells transfected with Myc-SDHA (light bars) or Myc-SDHAK179R,K541R (dark bars) (n = 3–4). *p < 0.05, two-way ANOVA and multiple-comparison test.
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Rare Diseases: Genetics and Metabolism 