Abstract
IntroductionIn 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 dataIn this article, a review of the current mitochondrial genetics literature was conducted using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/). In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), a repository of global mtDNA variation.Areas of agreementThe 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 controversyThe exact mechanisms which govern the inheritance of mtDNA are hotly debated.Growing pointsAlthough 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.
Highlights
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 variation in a growing spectrum of human disease
The aim of this review is to introduce these two genomes and shed light on the clinical problems arising when communication breaks down
Mitochondria are dependent upon the nuclear genome for the majority of the oxidative phosphorylation (OXPHOS) system and for maintaining and replicating mitochondrial DNA (mtDNA) as well as organelle network proliferation and destruction (Fig. 2)
Summary
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. This review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), 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. Thirteen of the genes encode one polypeptide component of the mitochondrial respiratory chain (RC), the site of cellular energy production through OXPHOS. Twenty-four genes encode a mature RNA product: 22 mitochondrial tRNA molecules, a 16 s rRNA (large ribosomal subunit) and a 12 s rRNA (small ribosomal subunit).[5] Unlike its nDNA counterpart, mtDNA is extremely efficient with ∼93% representing a coding region. The advent of deep, generation sequencing, allowing mtDNA can be sequenced at great depths (>20 000 fold) may enable researchers to revisit this phenomenon
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