title: Mitochondrial disease: a historical, biochemical, and London perspective.
abstract: Roland Luft is credited with describing the first truly mitochondrial disorder in the late 1950s and early 1960s. Cases such as his have proven to be exceptionally rare. Some years later, methods of mitochondrial analysis--enzymatic, polarographic, and spectroscopic, which had been developed primarily by groups in Philadelphia--were applied to the study of mitochondria isolated from skeletal muscle biopsies of patients thought to have defects of oxidative phosphorylation. In the vanguard of these investigations were groups in New York and London. John Clark led the latter group. Application of biochemical studies, more recently supplemented by molecular mtDNA and nuclear DNA studies, have revealed that mitochondrial disorders are among the most common of all metabolic disorders.
authors.affiliation: Neurometabolic Unit, Box 105, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG. John.Land@uclh.org
authors.forename: John M
authors.initials: JM
authors.lastname: Land
authors.forename: John A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: Iain
authors.initials: I
authors.lastname: Hargreaves
authors.forename: Simon J R
authors.initials: SJ
authors.lastname: Heales
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D005838:Genotype; D049673:History, 20th Century; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D008931:Mitochondria, Muscle / Q000473:pathology / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000235:genetics / Q000266:history / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000378:metabolism / Q000473:pathology; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial