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Cytopathological Mechanisms in Mitochondrial Disease

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The relationship between genotype and phenotype in mitochondrial diseases is complicated and poorly understood. The clinical manifestations of mitochondrial diseases vary dramatically in terms of symptoms, severity and age of onset. Furthermore, the same genetic defect can result in different symptoms amongst various individuals whereas different mutations can lead to the same phenotype. Such variation makes it impossible to predict the phenotypes of mitochondrial disease based on genetic defects.

Since mitochondria are crucial for energy supply, it has traditionally been accepted that ATP depletion is the main contributing factor to the symptoms associated with mitochondrial diseases. However, as mitochondria participate in such a diverse range of cellular functions and since the phenotypes of mitochondrial disease are extremely variable, the pathology of human mitochondrial diseases may be due to alterations in any of the various mitochondrial functions. For example, the tissue dysfunction associated with specific mitochondrial diseases may be due to excessive ROS production, altered calcium homeostasis which stimulates apoptosis or, as recent work has shown, activation of stress-sensitive signalling pathways. This review highlights these various mechanisms implicated in the cytopathology of mitochondrial disease and dysfunction.

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Keywords: AMPK; Mitochondrial disease; ROS; ageing; calcium signalling; pathogenic mechanisms

Document Type: Research Article

Publication date: January 1, 2010

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  • Current Chemical Biology aims to publish full-length and mini reviews on exciting new developments at the chemistry-biology interface, covering topics relating to Chemical Synthesis, Science at Chemistry-Biology Interface and Chemical Mechanisms of Biological Systems.

    Current Chemical Biology covers the following areas: Chemical Synthesis (Syntheses of biologically important macromolecules including proteins, polypeptides, oligonucleotides, oligosaccharides etc.; Asymmetric synthesis; Combinatorial synthesis; Diversity-oriented synthesis; Template-directed synthesis; Biomimetic synthesis; Solid phase biomolecular synthesis; Synthesis of small biomolecules: amino acids, peptides, lipids, carbohydrates and nucleosides; and Natural product synthesis).

    Science at Chemistry-Biology Interface (Chemical informatics; Macromolecular catalysts and receptors; Enzymatic synthesis; Biosynthetic engineering; Combinatorial biosynthesis; Plant cell based chemistry; Bacterial and viral cell based chemistry; Chemistry of cellular processes in plants/animals; Receptor chemistry; Cell signaling chemistry; Drug design through understanding of disease processes; Synthetic biology; New high throughput screening techniques; Small molecular array fabrication; Chemical genomics; Chemical and biological approaches to carbohydrates proteins and nucleic acids design; Chemical and biological regulation of biosynthetic pathways; and Unnatural biomolecular analogs).
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