title: Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies.
abstract: In recent years, research into the molecular bases of neurodegenerative diseases has progressed, and therapies have been developed to combat the causative agents. Based on the observation that progressive myoclonus epilepsies (PMEs) and neurodegenerative diseases share common features of neurodegeneration, we propose that the two pathologies share common underlying molecular characteristics. It is well documented that autophagy is overloaded or impaired in neurodegenerative conditions, and it is also impaired in some PMEs, the clearest example being EPM2 (Lafora disease). Although more research into this connection is warranted, we propose that existing therapies for PMEs could be augmented with similar drugs as those used for neurodegenerative diseases.
authors.affiliation: Department of Biochemistry, Molecular and Structural Biology, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
authors.forename: Mira
authors.initials: M
authors.lastname: Polajnar
authors.forename: Eva
authors.initials: E
authors.lastname: Zerovnik
mesh_terms: D001343:Autophagy / Q000187:drug effects / Q000502:physiology*; D015415:Biomarkers; D002352:Carrier Proteins / Q000235:genetics; D055313:Cystatin B / Q000235:genetics; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics / Q000276:immunology; D008954:Models, Biological; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000503:physiopathology; D018384:Oxidative Stress / Q000502:physiology; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D020123:Sirolimus / Q000494:pharmacology; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors; D044767:Ubiquitin-Protein Ligases
chemical_list: D015415:Biomarkers; C524994:CSTB protein, human; D002352:Carrier Proteins; C477012:MAP1LC3A protein, human; D008869:Microtubule-Associated Proteins; D055313:Cystatin B; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D058570:TOR Serine-Threonine Kinases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human; D020123:Sirolimus