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Published in: Journal of Inherited Metabolic Disease 2/2011

Open Access 01-04-2011 | Editorial

Mitochondrial medicine

Authors: Saskia Koene, Jan Smeitink

Published in: Journal of Inherited Metabolic Disease | Issue 2/2011

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Excerpt

Almost 50 years after the first description of a patient with a mitochondrial disease (Luft et al. 1962), there now is an extraordinarily rapid development in mitochondrial medicine. In the first 30 years of mitochondrial disease research, the focus was centered on unravelling the aetiology of the high variety of manifestations of mitochondrial dysfunction. Currently, one of the most important focuses is on providing a cure for these devastating diseases. In the first chapter of this issue, Salvatore DiMauro will guide you through the history of mitochondrial medicine, chronologically discussing important discoveries and dedicated mitochondriacs diseases (DOI: 10.​1007/​s10545-010-9082-x). Besides the ongoing development of new techniques to study mitochondrial (patho)physiology, genetics and organelle dynamics, it is the individual patients that taught us most about the physiology of the mitochondria. …
Literature
go back to reference Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B (1962) A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 41:1776–1804PubMedCrossRef Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B (1962) A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 41:1776–1804PubMedCrossRef
go back to reference Koene S, Smeitink J (2009) Mitochondrial medicine: entering the era of treatment. J Intern Med 265:193–209PubMedCrossRef Koene S, Smeitink J (2009) Mitochondrial medicine: entering the era of treatment. J Intern Med 265:193–209PubMedCrossRef
go back to reference Koopman WJ, Nijtmans LG, Dieteren CE, Roestenberg P, Valsecchi F, Smeitink JA, Willems PH (2009) Mammalian mitochondrial complex I: Biogenesis, regulation and reactive oxygen species generation. Antioxid Redox Signal Koopman WJ, Nijtmans LG, Dieteren CE, Roestenberg P, Valsecchi F, Smeitink JA, Willems PH (2009) Mammalian mitochondrial complex I: Biogenesis, regulation and reactive oxygen species generation. Antioxid Redox Signal
go back to reference Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J (2006) Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis 29:589PubMedCrossRef Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J (2006) Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis 29:589PubMedCrossRef
Metadata
Title
Mitochondrial medicine
Authors
Saskia Koene
Jan Smeitink
Publication date
01-04-2011
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9292-x

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