Browsing Faculty of Natural and Agricultural Sciences by Subject "Mitochondrial disease"
Now showing items 1-7 of 7
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Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?
(HMPG, 2016)The decision of the UK House of Commons in 2015 to endorse the use of pioneering in vitro fertilisation techniques to protect future generations from the risk of mitochondrial DNA (mtDNA) disease has sparked worldwide ... -
Initial development and validation of a mitochondrial disease quality of life scale
(Elsevier, 2013)Mitochondrial diseases are a clinically diverse group of genetic disorders that often present to neurologists. Health related quality of life (HRQOL) is increasingly recognised as a fundamental patient based outcome measure ... -
Metabolomics of mitochondrial disease
(Elsevier, 2017)Mitochondrial disease (MD) diagnostics and disease progression investigations have traditionally relied very little on metabolic data, due to a lack of biomarker sensitivity and specificity. The recent drive to find novel, ... -
Metabolomics of Ndufs4−/− skeletal muscle: adaptive mechanisms converge at the ubiquinone-cycle
(Elsevier, 2019)Leigh syndrome is one of the most common childhood-onset neurometabolic disorders resulting from a primary oxidative phosphorylation dysfunction and affecting mostly brain tissues. Ndufs4−/− mice have been widely used to ... -
Metallothionein 1 overexpression does not protect against mitochondrial disease pathology in Ndufs4 knockout mice
(Springer, 2021)Mitochondrial diseases (MD), such as Leigh syndrome (LS), present with severe neurological and muscular phenotypes in patients, but have no known cure and limited treatment options. Based on their neuroprotective effects ... -
The presence of highly disruptive 16S rRNAmutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease
(Elsevier, 2015)Mitochondrial DNA mutations are well recognized as an important cause of disease, with over two hundred variants in the protein encoding and mt-tRNA genes associated with human disorders. In contrast, the two genes encoding ... -
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
(Wiley, 2019)Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to ...