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Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders

Lookup NU author(s): Emeritus Professor Doug Turnbull


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The final steps in the production of adenosine triphosphate (ATP) in mitochondria are executed by a series of multisubunit complexes and electron carriers, which together constitute the oxidative phosphorylation (OXPHOS) system. OXPHOS is under dual genetic control, with communication between the nuclear and mitochondrial genomes essential for optimal assembly and function of the system. We describe the current understanding of the metabolic consequences of pathological OXPHOS defects, based on analyses of patients and of genetically engineered model systems. Understanding the metabolic consequences of OXPHOS disease is of key importance for elucidating pathogenic mechanisms, guiding diagnosis and developing therapies. © 2006 Elsevier Inc.

Publication metadata

Author(s): Smeitink JA, Zeviani M, Turnbull DM, Jacobs HT

Publication type: Note

Publication status: Published

Journal: Cell Metabolism

Year: 2006

Volume: 3

Issue: 1

Pages: 9-13

ISSN (print): 1550-4131

ISSN (electronic): 1932-7420


DOI: 10.1016/j.cmet.2005.12.001