|The Cape Peninsula University of Technology (CPUT) Electronic Theses and Dissertations (ETD) repository holds full-text theses and dissertations submitted for higher degrees at the University (including submissions from former Cape Technikon and Peninsula Technikon).|
The prevalence of maturity onset diabetes of the young (Mody) in a population from the Western Cape
Tshivhase, Abegail Mukhethwa
MetadataShow full item record
Background: Maturity Onset Diabetes of the Young (MODY) is a monogenic type of diabetes caused by a single gene mutation. Up to date 14 different MODY subtypes have been identified. Mutations in the glucokinase (MODY 3) and hepatic nuclear factor 1 alpha (HNF1A) (MODY 2) are the most frequent causes of MODY in all populations studied. Patients with MODY are misdiagnosed with type 1 or type 2 diabetes. Identifying patients with MODY is important as it affects treatment, for example, MODY 2 patients need no treatment, whereas those diagnosed with MODY 3 are very sensitive to low doses of sulphonylureas. To date, no data is available on the prevalence of MODY in populations from Africa. Thus, we aimed to investigate and report on the incidence of MODY, specifically mutations in the HNF1A gene in a population from the Western Cape. Methods: In this study, we screened for HNF1A MODY (MODY 3) mutations (rs115080759, rs140491072 rs137853245, and rs142318174) in 1639 (males = 406) individuals using real-time PCR. Positive MODY samples were confirmed by subsequent sequencing. All individuals underwent an oral glucose tolerance test. Results: The mean age of participants was 47.1±15.6 in males and 49.9±15.1 females. We identified 12 (0.73%) individuals with HNF1A gene polymorphisms; 12/1642 of rs115080759. Seven participants with a SNP in rs115080759 presented with normoglycemia, one with prediabetes, and four with diabetes. No polymorphism was detected in three SNPs; rs140491072, rs137853245 and rs142318174. Discussion and conclusion: To our knowledge, this is the first African study on MODY, and the incidence is similar to that reported in other studies. The results suggest that MODY is misdiagnosed with other types of diabetes in Africa; therefore, our findings support the introduction of diagnostic genetic testing for MODY in South Africa.
Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by-nc-sa/4.1
Showing items related by title, author, creator and subject.
Cardiovascular disease risk profile of the South-African mixed ancestry population with high incidence of diabetes mellitus: baseline and three year follow-up Soita, David Jonah (Cape Peninsula University of Technology, 2013)Introduction: Cardiovascular diseases (CVD) have become the leading cause of morbidity and mortality amongst the global population. Originally thought to be a health burden of high income countries, the prevalence is rapidly ...
The role of FTO, ENPP1 and TCF7L2 in the pathogenesis of diabetes in an adult population from Bellville South, Cape Town, South Africa Madubedube, Jabulisile Happiness (Cape Peninsula University of Technology, 2015)Background: The Mixed Ancestry population of South Africa has recently been reported to have a higher prevalence of type 2 diabetes (T2DM). However, the genetic risk factors that may contribute to the development of T2DM ...
Knowledge and practices of occupational health nurse practitioners in the management of diabetes mellitus in South Africa Pretorius, Margot (Cape Peninsula University of Technology, 2014)Diabetes is one of the major non-communicable diseases in South Africa (SA) and in 2008, 6.4 percent of the South African population was reported by Frost and Sullivan to have diabetes (Business Wire, 2008). Furthermore, ...