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Special Issue "Proteins and Mutations: Inherited Diseases, Drug Resistance and Pharmacogenomics"

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Special Issue Editors

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Guest Editor

Research Unit in Bioinformatics (RUBi), Department of Biochemistry and Microbiology, Rhodes University, Makhanda 6139, South Africa
Interests: structural bioinformatics and its applications to drug discovery

Prof. Dr. Carlo R. Largiadèr
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Guest Editor

Pharmacogenomics and Drug Metabolism Research Group, Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Interests: study of genomic variation as predictive or prognostic markers in the context of drug therapies

Special Issue Information

Dear Colleagues,

Genetic variations that result in changes in amino acids can have striking effects on proteins. These effects can lead to inherited diseases; cause drug resistance in both communicable and non-communicable diseases; and play an important role in pathogenicity and infectivity, among many other biological phenomena. Hence, deciphering the impact of mutations, particularly missense mutations, on protein structure and function would help to understand their effects, which would ultimately guide the design of safer and more effective therapies or the safer use of current treatments. In this context, this Special Issue aims to cover different aspects of mutations and their structural as well as functional effects on proteins, and welcomes contributions from, but not limited to, biochemical, computational, and structural studies in the form of original research articles or up-to-date reviews.

Prof. Dr. Ozlem Tastan Bishop
Prof. Dr. Carlo R. Largiadèr
Guest Editors

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Keywords

allostery
cancer
drug metabolism
drug resistance
drug and vaccine development
infectious diseases
missense mutations
pathogenicity
pharmacogenomics
rare diseases

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Review

Open AccessReview

Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa

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Int. J. Mol. Sci. 2023, 24(15), 12119; https://doi.org/10.3390/ijms241512119 - 28 Jul 2023

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Abstract

Inborn errors of immunity (IEI) are genetic disorders with extensive clinical presentations. They can range from increased susceptibility to infections to significant immune dysregulation that results in immune impairment. While IEI cases are individually rare, they collectively represent a significant burden of disease, especially in developing countries such as South Africa, where infectious diseases like tuberculosis (TB) are endemic. This is particularly alarming considering that certain high penetrance mutations that cause IEI, such as Mendelian Susceptibility to Mycobacterial Disease (MSMD), put individuals at higher risk for developing TB and other mycobacterial diseases. MSMD patients in South Africa often present with different clinical phenotypes than those from the developed world, therefore complicating the identification of disease-associated variants in this setting with a high burden of infectious diseases. The lack of available data, limited resources, as well as variability in clinical phenotype are the reasons many MSMD cases remain undetected or misdiagnosed. This article highlights the challenges in diagnosing MSMD in South Africa and proposes the use of transcriptomic analysis as a means of potentially identifying dysregulated pathways in affected African populations. Full article

(This article belongs to the Special Issue Proteins and Mutations: Inherited Diseases, Drug Resistance and Pharmacogenomics)

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Special Issue "Proteins and Mutations: Inherited Diseases, Drug Resistance and Pharmacogenomics"

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