title: The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases.
abstract: Mitochondrial diseases, are a prevalent but diverse group of inherited disorders affecting the oxidative phosphorylation (OXPHOS) system. Vast amount of information with respect to pathomechanism and the assembly of the various OXPHOS complexes has been accumulated by studying the different variants of these diseases. Conversely, the investigation of therapeutic strategies has been hampered by this extreme variability. Individual patient's fibroblast may therefore provide a suitable platform in the search for personalized treatments, of nuclear encoded defects, when the phenotype is expressed in multiple tissues. Examples and different approaches in the search for treatment options, while using fibroblasts from patients with nuclear encoded OXPHOS defects as model systems, are summarized and discussed.
authors.affiliation: Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh, Hadassah-Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel. annsr@hadassah.org.il
authors.forename: Ann
authors.initials: A
authors.lastname: Saada
mesh_terms: D002467:Cell Nucleus / Q000235:genetics*; D005347:Fibroblasts / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000628:therapy*; D046912:Multiprotein Complexes / Q000235:genetics / Q000378:metabolism; D010085:Oxidative Phosphorylation; D057285:Precision Medicine
chemical_list: D046912:Multiprotein Complexes