Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

Novaković, Ivana; Maksimović, Nela; Pavlović, Aleksandra M.; Žarković, Milena; Rovčanin, Branislav; Mirković, Darko; Gazibara, Tatjana; Cvetković, Dragana

doi:10.2478/jomb-2013-0039

Cited by 10 publications

(3 citation statements)

References 21 publications

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“…MTHFR plays important role in remethylation of homocysteine to methionine and its lower activity is linked to hyperhomocysteinemia, which has damaging effects on blood vessels, lipid metabolism, neuronal function, etc. [1,4,6]. In DM, high blood homocysteine is associated with neurovascular complications.…”

Section: Other Genetic Risk Factors For Diabetic Neuropathymentioning

confidence: 99%

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Genetic and Epigenomic Modifiers of Diabetic Neuropathy

Janković

Novaković

Nikolić

et al. 2021

IJMS

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Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients’ quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of “metabolic memory” in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.

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Section: Other Genetic Risk Factors For Diabetic Neuropathymentioning

confidence: 99%

“…Several issues, well known for such type of studies in general, are different sample size and structure, population and ethnic specificity, complex interaction between genes and environment, etc. [1,2,6].…”

Section: Introductionmentioning

confidence: 99%

Genetic and Epigenomic Modifiers of Diabetic Neuropathy

Janković

Novaković

Nikolić

et al. 2021

IJMS

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“…In addition, there are data about the role of both ε2 and ε4 variants in the APOE gene as risk alleles. [84][85][86].…”

Section: Pharmacogenetic Markers In Strokementioning

confidence: 99%

Genetic Aspects of Inflammation and Immune Response in Stroke

Nikolić

Janković

Petrović³

et al. 2020

IJMS

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Genetic determinants play important role in the complex processes of inflammation and immune response in stroke and could be studied in different ways. Inflammation and immunomodulation are associated with repair processes in ischemic stroke, and together with the concept of preconditioning are promising modes of stroke treatment. One of the important aspects to be considered in the recovery of patients after the stroke is a genetic predisposition, which has been studied extensively. Polymorphisms in a number of candidate genes, such as IL-6, BDNF, COX2, CYPC19, and GPIIIa could be associated with stroke outcome and recovery. Recent GWAS studies pointed to the variant in genesPATJ and LOC as new genetic markers of long term outcome. Epigenetic regulation of immune response in stroke is also important, with mechanisms of histone modifications, DNA methylation, and activity of non-coding RNAs. These complex processes are changing from acute phase over the repair to establishing homeostasis or to provoke exaggerated reaction and death. Pharmacogenetics and pharmacogenomics of stroke cures might also be evaluated in the context of immuno-inflammation and brain plasticity. Potential novel genetic treatment modalities are challenged but still in the early phase of the investigation.

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Pharmacogenetics May Influence Tacrolimus Daily Dose, But Not Urinary Tubular Damage Markers In The Long-Term Period After Renal Transplantation

Stefanović¹,

Cvetković²,

Veličković‐Radovanović³

et al. 2015

Journal of Medical Biochemistry

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SummaryBackgroundThe primary goal of this study was to evaluate the influence of cytochrome P450 (CYP) 3A5 (6986A>G) and ABCB1 (3435C>T) polymorphisms on tacrolimus (TAC) dosage regimen and exposure. Second, we evaluated the influence of TAC dosage regimen and the tested polymorphisms on renal oxidative injury, as well as the urinary activities of tubular ectoenzymes in a long-term period after transplantation. Also, we aimed to determine the association between renal oxidative stress and tubular damage markers in the renal transplant patients.MethodsThe study included 72 patients who were on TAC based immunosuppression. Allele-specific PCR was used for polymorphism determination. We measured the urinary thiobarbituric acid reactive substances (TBARS) and reactive carbonyl derivates (RCD) in order to evaluate oxidative injury, as well as the urinary activities of ectoenzymes (N-acetyl-β-D-glucosaminidase, aminopeptidase N and dipeptidyl peptidase IV) to evaluate tubular damage.ResultsThe carriers of CYP 3A5*1 allele required statistically higher daily doses of TAC than CYP *3/*3 carriers, as well as the carriers of C allele of ABCB1 gene compared to those with TT genotype. Also, there were no differences in TBARS, RCD and the activities of ectoenzymes between the patients’ genotypes. Our results showed significant correlations between urinary TBARS and RCD and the ectoenzymes’ activities.ConclusionsOur findings suggest that CYP 3A5 and ABCB1 3435 polymorphism may affect TAC daily doses, but not the drug’s tubular toxicity. Furthermore, tubular damage may be associated with increased renal oxidative stress.

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Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

Cited by 10 publications

References 21 publications

Genetic and Epigenomic Modifiers of Diabetic Neuropathy

Genetic and Epigenomic Modifiers of Diabetic Neuropathy

Genetic Aspects of Inflammation and Immune Response in Stroke

Pharmacogenetics May Influence Tacrolimus Daily Dose, But Not Urinary Tubular Damage Markers In The Long-Term Period After Renal Transplantation

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