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Mitochondrial Respiratory Chain

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Laboratory Guide to the Methods in Biochemical Genetics

Abstract

Assessing mitochondrial respiratory chain function is widely recognized as a necessity in a growing number of diseases, echoing the major role of the mitochondria in a number of cellular processes. This chapter reviews our present knowledge on the clinical presentations associated with primary mitochondrial dysfunctions. It then described the major hallmarks which can be studied in patients at risk, including clinical indications and metabolites analyses. It then focuses on biochemical assays susceptible to characterize respiratory chain dysfunctions, often a necessity for a successful identification of the molecular bases of these diseases.

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Authors and Affiliations

  1. Hopital Robert Debre, INSERM U676, 48, Boulevard Serurier, 75019, Paris, France

    Pierre Rustin

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  1. Pierre Rustin
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Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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Rustin, P. (2008). Mitochondrial Respiratory Chain. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_16

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_16

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  • Online ISBN: 978-3-540-76698-8

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