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Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation
Conclusion: The understanding of the molecular pathways of hereditary spastic paraplegia, together with the establishment of disease biomarkers, will hopefully lead to better and more personalized treatment. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

T Allele of the DRD2 Taq1A Gene Polymorphism Increases the Predisposition to Drug Addiction in Indonesian Population
This study will focus on the frequency of the DRD2 Taq1A gene polymorphism in the population of Indonesia and define its association with drug addiction. Methods: This is a cross sectional study in which 182 subjects were divided into 91 drugaddicted patients and 91 non-drug-addicted control subjects. The genotype analysis was carried out by a modified allele-specific Polymerase Chain Reaction (PCR) method. Results: The frequency of the T/T and C/T was significantly higher in the addicted than control subjects. They are 6.6% and 63.7% compared to 0% and 3.3%. Likewise, the T allele is more frequent in the addicted equal to...
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

Expression of Angiogenesis-related Genes in a Group of Iranian Cases of Breast Cancer
This study aims to design an angiogenesis gene expression profile; to study angiogenesis gene expression profile in breast cancer; and to map angiogenesis gene expression profile in individual participants. Background: In molecular etiology of each disease, there are some important molecules involved in the related pathways. From the viewpoint of precision medicine, molecular etiology of a disease is different person by person because of genetic variations of the genes involved in these pathways. This point of view intends researchers of drug development to design novel drugs for targeted therapy based on the exact etiolog...
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

Novel Somatic Mutations of the CDH1 Gene Associated with Gastric Cancer: Prediction of Pathogenicity Using Comprehensive In silico Methods
Conclusion: This study estimates the specificity and sensitivity of prediction tools in predicting novel missense variants of CDH1 in Gastric Cancer. We report that PROVEAN, Polyphen 2 and PANTHER are efficient predictors with constant higher specificity and accuracy. This study will help the researchers to explore mutations with the best pathogenicity prediction tools. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

Gene Frequency of CYP2D6*4 and *10 Variants in Karachi Population
Conclusion: Genotyping of CYP2D6 alleles among schizophrenic patients indicated prevalence of *4 and *10 variants in Karachi population producing non-functional (poor metabolizer) and reduced functional (intermediate metabolizer) drug metabolizing enzymes phenotypes, respectively. Hence, dose adjustment is crucial otherwise schizophrenia condition will not be improved satisfactorily. Therefore, CYP2D6 gene screening program should be included in clinical practice to help clinicians to prescribe appropriate doses according to patient’s genotype and minimize sufferings of schizophrenics including side effects of drug that ...
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

AtreMorine Treatment Regulates DNA Methylation in Neurodegenerative Disorders: Epigenetic and Pharmacogenetic Studies
Conclusion: Our results suggest that AtreMorine regulates DNA methylation in neurodegenerative disorders and may constitute a new therapeutic option for the treatment of these pathologies. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

Genetic Determinants Involved in the Osteoporosis Pathophysiology
Osteoporosis is a chronic disease characterized by decreased bone mass and distorted microarchitecture that leads to increased bone fragility making an individual prone to fractures. It is one of the most widely affected diseases worldwide that has the potential to cause serious morbidity, mortality and cost implications. It is a multifactorial disease that is influenced by the interaction between genetic, hormonal, nutritional and environmental factors. As it is a polygenic disorder, myriad genes influence the disease condition to a varied extent. The identification of genes or loci that effects the development of the dis...
Source: Current Pharmacogenomics and Personalized Medicine - February 1, 2021 Category: Genetics & Stem Cells Source Type: research

The SNPs within 3'UTR of miRNA Target Genes Related to Multiple Sclerosis: A Computational Prediction
Conclusion: Therefore, these miRNA and MRE-SNPs may play important roles in personalized medicine of MS, and hence, they would be valuable for further functional verification investigations. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

In Silico Study of Potential Cross-Kingdom Plant MicroRNA Based Regulation in Chronic Myeloid Leukemia
Conclusion: It is predicted that these microRNAs post-transcriptionally inhibit the BCRABL1 gene and thus could be a potential molecular targeted therapy for CML. However, further studies involving in vitro, in vivo and functional analyses need to be carried out to determine the ability of these miRNAs to form the basis for targeted therapy for CML. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

Genomics and Pharmacogenomics of Rhinosinusitis
Conclusion: SLCO1B1-TNF-CYP1A2 and IL1B-TNF-CYP1A2 trigenic clusters may condition the chronicity of sinusitis. Eosinophilia and HDL are factors involved in inflammation, and thus in the development of CRS. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

Oncogenomics and CYP450 Implications in Personalized Cancer Therapy
Conclusion: This review outlines the roles of oncogenes, the importance of cytochrome P450 (CYP450) in cancer susceptibility, and its impact on drug metabolism, proposing combined approaches to achieve precision therapy. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

Association of FOXP3 Polymorphisms with Susceptibility to Multiple Sclerosis: A Meta-Analysis on Genetic Association Studies
Conclusion: According to the collected populations, susceptibility to and protection from MS are associated with rs3761548 -3279 C/A upstream polymorphism. However, it should be regarded that this association is ethnicity dependent with low effect size. (Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

Current Translational Insights into MGMT Methylation Regulating Temozolomide Sensitivity and Resistance in Glioblastoma Multiforme
Conclusion: Taken together, given the regulation of temozolomide resistance by MGMT, intermediate and late discovery groups may focus their efforts on pharmacologic inhibition of MGMT, singly or in combination with radiotherapy or immunotherapy, to combat temozolomide resistance in GBM patients. In addition, one may speculate that the combined clinical use of temozolomide with a drug regulator-approved MGMT inhibitor as well as an immune checkpoint inhibitor such as nivolumab may prove beneficial. Future studies may also investigate any inter-ethnic variability in population pharmacogenetics of MGMT and pharmacometric appr...
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

The PharmacoEpiGenetic Connection
(Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research

Meet Our Editor-in-Chief
(Source: Current Pharmacogenomics and Personalized Medicine)
Source: Current Pharmacogenomics and Personalized Medicine - October 28, 2020 Category: Genetics & Stem Cells Source Type: research