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The relevance of population specific standardisation in the analysis of specific type 2 diabetes mellitus genetic susceptibility loci
(North-West University, 2004)
Type 2 diabetes mellitus (T2D) is currently one of the fastest growing non-communicable
diseases in the world. It is induced by the pathogenic interaction between insulin
resistance and secretion. There are numerous forms ...
Molecular screening for specific causative mutations in the South African malignant hyperthermia population
(North-West University, 2004)
Malignant hyperthermia (MH) is an autosomal dominant, pharmacogenetic disorder. MH susceptible (MHS) patients appear clinically normal, but may present with a hypermetabolic crisis and muscle contracture when exposed to ...
MtDNA landscape in South African paediatric patients clinically diagnosed with suspected mitochondrial disorders
(North-West University, 2004)
The relevance of haplogroups in mitochondrial disease was investigated in this study.
Twenty-seven paediatric patients with clinically suspected mitochondrial disorders from
diverse ethnic origins were investigated via ...
Analysis of metallothionein gene expression in oxidative stress related disorders
(North-West University, 2004)
Increased reactive oxygen species (ROS) have been reported to be at the centre of various diseases. Although several reports have implicated elevated levels of ROS in the
pathogenesis of diabetes mellitus, the early ...
Molecular analysis of the mitochondrial genome in South African patients with suspected mitochondrial disorders
(North-West University, 2003)
Human mitochondrial DNA (mtDNA) contains 37 genes, which encode 13 proteins (all subunits of the respiratory chain), 22 transfer ribonucleic acids (tRNA), and two ribosomal RNAs. The mtDNA mutation rate is approximately ...
Molecular screening of the G3277A alteration in a Black South African diabetic population
(North-West University, 2003)
The diabetic disorder is a collection of genetic diseases with a common phenotype of impaired glucose homeostasis and affects many different organs, resulting in a clinically
heterogeneous phenotype with strong genetic ...
Molecular analysis of the facioscapulohumeral muscular dystrophy (FSHD) associated DNA rearrangements in the South African population
(North-West University, 2003)
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited
disorder of muscle after Duchenne and Myotonic dystrophy, with a prevalence of at least 1 in 20,000. FSHD is characterised by progressive ...
Metallothionein expression in tissues of rotenone-treated rats
(North-West University, 2006)
Mitochondrial NADH:ubiquinone oxidoreductase (complex I) carries out a number of well defined functions required for cell physiology. Deficiencies of complex I lead to multi-system disorders that include several well-known ...
Mitochondrial genome consensus sequence for the South African Khoi–San population
(North-West University, 2003)
Maternal inheritance and the absence of recombination have contributed to mitochondrial deoxyribonucleic acid (mtDNA) being utilised to study human evolution. This, together with an increased mutation rate in mtDNA, provides ...
Screening of the RYR1 gene in malignant hyperthermia probands from South Africa indicates towards a novel epigenetic eatiology in this population
(North-West University, 2007)
Malignant hyperthermia (MH) is an autosomal dominant, potentially lethal pharmacogenetic disorder of skeletal muscle, which is elicited by exposure to volatile anaesthetics and depolarising muscle relaxants. Susceptible ...