scholarly journals Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

2015 ◽  
Vol 168 (7) ◽  
pp. 573-585 ◽  
Author(s):  
Amanda Krause ◽  
Claire Mitchell ◽  
Fahmida Essop ◽  
Susan Tager ◽  
James Temlett ◽  
...  
Keyword(s):  
South African ◽  
Huntington Disease ◽  
African Ancestry ◽  
Disease Phenotype ◽  
African Patients

C03 A CIS-acting modifier of age at diagnosis of huntington disease in black south african patients

2018 ◽  
Author(s):  
Jessica Levesley ◽  
Fiona Baine ◽  
Marc Ciosi ◽  
Alastair Maxwell ◽  
Darren G Monckton ◽  
...  
Keyword(s):  
South African ◽  
Huntington Disease ◽  
Age At Diagnosis ◽  
Cis Acting ◽  
Black South African ◽  
African Patients

scholarly journals Inflammatory metabolic profile of South African patients with prostate cancer

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Stefano Cacciatore ◽  
Martha Wium ◽  
Cristina Licari ◽  
Aderonke Ajayi-Smith ◽  
Lorenzo Masieri ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
South African ◽  
Metabolic Profile ◽  
African Ancestry ◽  
Strong Association ◽  
Tumor Stage ◽  
Metabolic Phenotype ◽  
Plasma Metabolome ◽  
African Patients ◽  
High Level

Abstract Background Men with African ancestry are more likely to develop aggressive prostate cancer (PCa) and to die from this disease. The study of PCa in the South African population represents an opportunity for biomedical research due to the high prevalence of aggressive PCa. While inflammation is known to play a significant role in PCa progression, its association with tumor stage in populations of African descent has not been explored in detail. Identification of new metabolic biomarkers of inflammation may improve diagnosis of patients with aggressive PCa. Methods Plasma samples were profiled from 41 South African men with PCa using nuclear magnetic resonance (NMR) spectroscopy. A total of 41 features, including metabolites, lipid classes, total protein, and the inflammatory NMR markers, GlycA, and GlycB, were quantified from each NMR spectrum. The Bruker’s B.I.-LISA protocols were used to characterize 114 parameters related to the lipoproteins. The unsupervised KODAMA method was used to stratify the patients of our cohort based on their metabolic profile. Results We found that the plasma of patients with very high risk, aggressive PCa and high level of C-reactive protein have a peculiar metabolic phenotype (metabotype) characterized by extremely high levels of GlycA and GlycB. The inflammatory processes linked to the higher level of GlycA and GlycB are characterized by a deep change of the plasma metabolome that may be used to improve the stratification of patients with PCa. We also identified a not previously known relationship between high values of VLDL and low level of GlycB in a different metabotype of patients characterized by lower-risk PCa. Conclusions For the first time, a portrait of the metabolic changes in African men with PCa has been delineated indicating a strong association between inflammation and metabolic profiles. Our findings indicate how the metabolic profile could be used to identify those patients with high level of inflammation, characterized by aggressive PCa and short life expectancy. Integrating a metabolomic analysis as a tool for patient stratification could be important for opening the door to the development of new therapies. Further investigations are needed to understand the prevalence of an inflammatory metabotype in patients with aggressive PCa.

scholarly journals  -adducin polymorphism in hypertensives of South African ancestry

2000 ◽  
Vol 13 (6) ◽  
pp. 719-723 ◽  
Author(s):  
C. Barlassina ◽  
G. R. Norton ◽  
N. J. Samani ◽  
A. J. Woodwiss ◽  
G. C. Candy ◽  
...  
Keyword(s):  
South African ◽  
African Ancestry

Warfarin Dose and CYP2C Gene Cluster: An African Ancestral-Specific Variant Is a Strong Predictor of Dose in Black South African Patients

2019 ◽  
Vol 23 (1) ◽  
pp. 36-44 ◽  
Author(s):  
Arinao Ndadza ◽  
Zinhle Cindi ◽  
Edson Makambwa ◽  
Emile Chimusa ◽  
Ambroise Wonkam ◽  
...  
Keyword(s):  
Gene Cluster ◽  
South African ◽  
Strong Predictor ◽  
Warfarin Dose ◽  
Black South African ◽  
African Patients
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