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      Mitochondrial genetics

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          In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders.

          Sources of data

          In this article, a review of the current mitochondrial genetics literature was conducted using PubMed ( In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (, the Human DNA polymerase Gamma Mutation Database ( and (, a repository of global mtDNA variation.

          Areas of agreement

          The disruption in cellular energy, resulting from defects in mtDNA or defects in the nuclear-encoded genes responsible for mitochondrial maintenance, manifests in a growing number of human diseases.

          Areas of controversy

          The exact mechanisms which govern the inheritance of mtDNA are hotly debated.

          Growing points

          Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease.

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          Most cited references 173

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          Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.

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            Mitochondrial fission, fusion, and stress.

            Mitochondrial fission and fusion play critical roles in maintaining functional mitochondria when cells experience metabolic or environmental stresses. Fusion helps mitigate stress by mixing the contents of partially damaged mitochondria as a form of complementation. Fission is needed to create new mitochondria, but it also contributes to quality control by enabling the removal of damaged mitochondria and can facilitate apoptosis during high levels of cellular stress. Disruptions in these processes affect normal development, and they have been implicated in neurodegenerative diseases, such as Parkinson's.
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              A mitochondrial protein compendium elucidates complex I disease biology.

              Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of human diseases. Identifying all of the proteins resident in this organelle and understanding how they integrate into pathways represent major challenges in cell biology. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning to create a mitochondrial compendium of 1098 genes and their protein expression across 14 mouse tissues. We link poorly characterized proteins in this inventory to known mitochondrial pathways by virtue of shared evolutionary history. Using this approach, we predict 19 proteins to be important for the function of complex I (CI) of the electron transport chain. We validate a subset of these predictions using RNAi, including C8orf38, which we further show harbors an inherited mutation in a lethal, infantile CI deficiency. Our results have important implications for understanding CI function and pathogenesis and, more generally, illustrate how our compendium can serve as a foundation for systematic investigations of mitochondria.

                Author and article information

                Br Med Bull
                Br. Med. Bull
                British Medical Bulletin
                Oxford University Press
                June 2013
                June 2013
                : 106
                : 1
                : 135-159
                Institute of Genetic Medicine, International Centre for Life, Newcastle University , Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
                Author notes
                [* ]Correspondence address. Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. E-mail: gavin.hudson@
                © The Author 2013. Published by Oxford University Press.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.



                mitochondria, mtdna, mitochondrial disease, mitochondrial dna, genetics


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