Abstract
The mechanism of NADH oxidation varies between living organisms, and is by far the most complex oxidizing system found in mitochondria. In human mitochondria, a unique, but huge structure, with more than 45 subunits, known as complex I, copes with NADH oxidation. This review compiles our present knowledge on the organization of this complex and the putative role of a small subset of its subunits. This review also describes the major progress that has been made in understanding the molecular bases of respiratory chain complex I deficiency in humans, with mutations identified in both the mitochondrial and the nuclear genes encoding complex I subunits. Finally, the puzzling questions raised by the varying clinical presentations of patients with complex I deficiency are discussed in light of our limited knowledge on complex I function in mammalian cells.
Keywords: mitochondria, respiratory chain, complex I deficiency, nadh
Current Genomics
Title: Mitochondrial Complex I Deficiency in Humans
Volume: 5 Issue: 2
Author(s): Paule Benit, Sophie Lebon, Marie Chol, Irina Giurgea, Agnes Rotig and Pierre Rustin
Affiliation:
Keywords: mitochondria, respiratory chain, complex I deficiency, nadh
Abstract: The mechanism of NADH oxidation varies between living organisms, and is by far the most complex oxidizing system found in mitochondria. In human mitochondria, a unique, but huge structure, with more than 45 subunits, known as complex I, copes with NADH oxidation. This review compiles our present knowledge on the organization of this complex and the putative role of a small subset of its subunits. This review also describes the major progress that has been made in understanding the molecular bases of respiratory chain complex I deficiency in humans, with mutations identified in both the mitochondrial and the nuclear genes encoding complex I subunits. Finally, the puzzling questions raised by the varying clinical presentations of patients with complex I deficiency are discussed in light of our limited knowledge on complex I function in mammalian cells.
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Cite this article as:
Benit Paule, Lebon Sophie, Chol Marie, Giurgea Irina, Rotig Agnes and Rustin Pierre, Mitochondrial Complex I Deficiency in Humans, Current Genomics 2004; 5 (2) . https://dx.doi.org/10.2174/1389202043489971
DOI https://dx.doi.org/10.2174/1389202043489971 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
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