title: Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers.
abstract: Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinicians must have a high index of suspicion to make early diagnoses. Symptoms could include muscle weakness and pain, seizures, loss of motor control, decreased visual and auditory functions, metabolic acidosis, acute developmental regression, and immune system dysfunction. The 2013 Neurobiology of Disease in Children Symposium, held in conjunction with the 42nd Annual Meeting of the Child Neurology Society, aimed to (1) describe accepted clinical phenotypes of mitochondrial disease produced from various mitochondrial mutations, (2) discuss contemporary understanding of molecular mechanisms that contribute to disease pathology, (3) highlight the systemic effects produced by dysfunction within the mitochondrial machinery, and (4) introduce current strategies that are being translated from bench to bedside as potential therapeutics.
authors.affiliation: Department of Pediatrics, Georgia Regents University, Augusta, GA, USA.
authors.forename: Ben
authors.initials: B
authors.lastname: Thornton
authors.affiliation: Akron Children's Hospital, Akron, OH, USA.
authors.forename: Bruce
authors.initials: B
authors.lastname: Cohen
authors.affiliation: National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
authors.forename: William
authors.initials: W
authors.lastname: Copeland
authors.affiliation: Department of Pediatrics, Georgia Regents University, Augusta, GA, USA bmaria@gru.edu.
authors.forename: Bernard L
authors.initials: BL
authors.lastname: Maria
mesh_terms: D000818:Animals; D002648:Child; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000502:physiology; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D009446:Neurobiology; D012955:Societies, Medical
keywords: mitochondrial disease