Browsing by Subject "African"

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    A cost effective RFLP method to genotype Solute carrier organic anion 1B1 (SLCO1B1) c.1929A>C (p.Leu643Phe, rs34671512); a variant with potential effect on rosuvastatin pharmacokinetics
    (BioMed Central, 2018-06-14) Soko, Nyarai D; Masimirembwa, Collen; Dandara, Collet
    Objective: This study describes a restriction fragment polymorphism protocol for rapidly screening the polymorphism SLCO1B1 c.1929A>C in genomic DNA samples. The polymorphism SLCO1B1 c.1929A>C has been associated with increased activity resulting in increased hepatic uptake of drugs. Currently SLCO1B1 c.1929A>C is genotyped using direct sequencing techniques and 5′ nuclease based assays which can be cost prohibiting in resource limited settings. The aim of this study therefore was to design and validate a cost effective RFLP for genotyping the SLCO1B1 c.1929A>C polymorphism. This study was designed to investigate the effect of the polymorphism SLCO1B1 c.1929A>C on interindividual variability in rosuvastatin pharmacokinetics in healthy volunteers of African descent. Results We describe a restriction fragment length polymorphism method to genotype SLCO1B1 c.1929A>C polymorphism using the restriction enzyme Ase1. A student’s t test with Welch correction was used to establish association between the SLCO1B1 c.1929A>C variant and rosuvastatin exposure. The frequency of the SLCO1B1 c.1929C allele amongst Zimbabweans was 6%. The SLCO1B1 c.1929C allele was associated with a 75% reduction (P < 0.001) in rosuvastatin exposure when compared to individuals carrying the wild type SLCO1B1 c.1929A allele. Polymorphism c.1929A>C may therefore play a significant role in rosuvastatin response. The RFLP method is quick and cost effective.
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    A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora
    (Association for Research in Vision and Ophthalmology (ARVO), 2015-10) Roberts, Lisa; George, Siddiqah; Greenberg, Jacquie; Ramesar, Raj
    PURPOSE. Research over the past 25 years at the University of Cape Town has led to the identification of causative mutations in 17% of the 1416 families in the Retinal Degenerative Diseases (RDD) biorepository in South Africa. A low rate of mutation detection has been observed in patients of indigenous African origin, hinting at novel genes and mutations in this population. Recently, however, data from our translational research program showed two unrelated indigenous African families with Usher syndrome (USH), with the same homozygous MYO7A mutation. Therefore, the extent to which this mutation contributes toward the disease burden in South Africa was investigated. METHODS. Cohorts of unrelated indigenous South African probands with different RDD diagnoses were tested for the MYO7A c.6377delC mutation. Familial cosegregation analysis was performed for homozygous probands, clinical data were evaluated, and SNP haplotypes were analyzed. RESULTS. This homozygous MYO7A mutation underlies a remarkable 43% of indigenous African USH cases investigated in this study, the majority of which (60%) were diagnosed clinically with Type 2 USH. All homozygotes shared a common haplotype. This mutation does not appear to cause nonsyndromic vision loss. CONCLUSIONS. Of interest is the origin of this common mutation relevant to the Bantu population migration into southern Africa. Further investigation of the phenotype may elucidate the disease biology, and perhaps reveal a larger cohort with the same mutation, with which to assess the impact of environmental and genetic modifiers and evaluate therapeutic trials.
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    Probing the mechanisms of action and resistance of mixed-ligand platinum(II) complexes with dual-stage antiplasmodium activity
    (2025) Ishmail, Fatima-Zahra; Chibale, Kelly; Wicht, Kathryn; Woodland, John; Egan, Timothy
    Malaria remains one of the largest parasitic disease burdens worldwide, with the vast majority of that burden occurring on the African continent. The ongoing high number of malaria cases and deaths is in part attributable to the emergence and spread of resistance to most clinical chemotherapeutics. With the reported development of partial resistance to the current front-line artemisinin-based combination therapies, there is an increased risk of malaria morbidity and mortality as limited replacement treatments are currently available. For that reason, it is essential to invest in the discovery of compounds with novel mechanisms of action (MoA), dual-stage activity, and with immutable targets. Until now, drug discovery has typically focused on the development of antimalarials that are entirely organic in composition. This has left the field of inorganic medicinal chemistry and transition metal-based chemotherapeutics underexplored and underrepresented.
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    (Re)storing and (Re)storying men with broken wrists: using intsomi as critical fabulation to refute the notion of queerness as un-African
    (2025) Nyezi, Freddy Junior Sikhanyiso; Mtshali, Mbongeni; Mbothwe, Mandla
    My research attempts to challenge the contemporary perception of homosexuality as “un-African”. This misconception is often grounded in the perceived absence of queer people of colour from the “archive” of black African (hi)stories that shape our collective understandings of who is and who is not properly “African”. Given that what we do know of how gender is conceived among African societies comes to us predominantly via the colonial archive with all its attendant elisions and lacunae, there is a strong case to be made for treating these histories and the authority they assume in defining our contemporary politics of belonging with some scepticism. Accordingly, I (re)turn to the archive of indigenous African folktales as a means to challenge cultural myths of queer black (un)belonging. In my final thesis project, I take the Xhosa ntsomi (folktale) seriously as a mode of producing and transmitting cultural knowledge and appropriate its formal aesthetics to create queer speculative fictions/myths that subvert neocolonial heteropatriarchy and the attempted erasure of black queer personhood from the story of Africa. Using the culturally embedded formal and narrative tropes of intsomi alongside techniques of biomythography and critical fabulations to queer the neocolonial archive, I work to “(re)store” and “(re)story” black queer African personhood, affirming its complicated place in African society and the visions of freedom and belonging animated by our shared histories of anti-/decolonial struggle.