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Rare, Mitochondrial and Neuromuscular Diseases


The ERMN group is a multidisciplinary team comprising researchers from the clinical laboratory, molecular biologists and clinical researchers, consequently our strategy is focused on the clinical translation of basic research oriented to the disease and the patient, and reverse, in the context of the rare diseases we are interested in. We are members and coordinators of national clinical networks CSUR and participate in the European network METAB-ERN (Network for Rare Hereditary Metabolic Disorders).

Our purpose is to advance in the knowledge of the genetic and molecular basis, and the pathophysiology of mitochondrial OXPHOS diseases, and neurometabolic myopathies (metabolic intolerances to exercise, lipid myopathies) and other diseases related to cell metabolism, with the aim of improve the diagnosis, prevention and treatment of these pathologies in the field of rare or minority diseases. We are members of the CIBER of rare diseases (CIBERER) of the ISCIII, and partners in the Network of Biosciences of the Community of Madrid, RareGenomics.

In addition, we are interested in the study of the contribution of genetic variability and the different biological functions of the mitochondria in prevalent clinical processes and dysfunctions such as muscle atrophy, aging, neurodegeneration and osteoarthritis, as well as the implication of physical exercise as a therapeutic intervention in these diseases, collaborating with different research groups.

The specific objectives are:

  1. OXPHOS mitochondrial diseases, metabolic myopathies and other diseases of cellular metabolism
    1. Development and clinical translations of genetic-molecular diagnostic methods using massive parallel sequencing (MPS/NGS), including bioinformatic developments: gene panels, deep sequencing of mtDNA and WES -exome – (optimization of the analysis of sequencing data of complete exomes). Functional characterization of new mutations and identification of new nuclear genes in the pathologies studied.
  2. OXPHOS Genetics and Biomarkers
    1. Genetic characterization of mitochondrial diseases through functional complementation of cell lines of patients with an expression library.
    2. Identification and functional characterization of biomarkers of mitochondrial diseases associated with enzymatic deficits OXPHOS.
    3. Functional biomarkers, such as VO2max in mitochondrial pathology.
  3. Physiopathology OXPHOS
    1. Studies of key factors involved in CRM assembly using human cells and disease cell models; biogenesis of supercomplexes and their regulation in health and disease.
    2. Role of dynamics and mitophagy in mitochondrial neuropathies and in patients with mutations in mitochondrial DNA and nuclear DNA.
  4. OXPHOS Therapy
    1. To study the effects of physical training on the brain, skeletal muscle and evolution of the disease in patients with mitochondrial pathology and in murine models.
    2. Study of the potential therapeutic use of different compounds in cellular models of mitochondrial disease.
    3. Use of genetically directed therapies using nucleosides in mitochondrial patients with defects in mitochondrial DNA maintenance pathways.
  5. Metabolic intolerances to exercise and myopathies
    1. Pathophysiology and genotype-phenotype relationship in type V glycogenesis (McArdle’s disease).
    2. Patient registers and application of physical exercise programs to improve their quality of life.