Browsing by Subject "Mitochondrial disease"
Now showing items 1-10 of 15
-
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 ... -
The effect of metallothionein overexpression on the transcription of selected genes involved in one-carbon metabolism and oxidative stress in NDUFS4-deficient mouse tissues
(North-West University (South Africa), 2020)Respiratory complex I (CI) defects are the most common mitochondrial disease, for which treatment is limited. Additionally, there is a lack of understanding of the impact of a CI defect upon the gene expression regulation ... -
Evaluation of metallothionein involvement in the modulation of mitochondrial respiration in mice
(North-West University, 2011)Metallothioneins (MTs) are small, non-enzymatic proteins that are involved in cellular detoxification and metal homeostasis because of their high cysteine content. MTs have also been identified as one of the vast number ... -
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 ... -
Investigating gene mutations in a South African paediatric cohort diagnosed with mitochondrial disease
(North-West University (South Africa). Potchefstroom Campus, 2019)Mitochondrial diseases (MD) are a clinically heterogenous group of genetic disorders that affect the neuromuscular system, the central nervous system (collectively known as encephalomyopathies), and other high-energy ... -
Investigating the use of the uaDf5 C. elegans strain as a potential model of mitochondrial DNA deletion disease
(North-West University (South Africa), 2022)Mutations in mitochondrial DNA (mtDNA) result in primary mitochondrial disease (MD), which presents with a wide range of clinical phenotypes. There is currently no cure for MD, this can be attributed to the major phenotypical ... -
Investigating tissue-specificity in a mouse model of Leigh Syndrome using metabolomics
(North-West University (South Africa), 2022)Mitochondrial disease (MD) is one of the most challenging groups of inborn disorders featuring a tissue-specific vulnerability, governed by largely unknown mechanisms. The value of metabolomics in multi-systemic MD ... -
Investigation into the protection of mitochondrial disease pathology by metallothionein overexpression
(North-West University (South Africa), 2020)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 ... -
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 ...