polymorphism

Drug-Resistant Tuberculosis (DR-TB) and Anti-TB Drug-Induced Liver Injury (AT-DILI) are frequently linked to polymorphisms in drug-metabolizing enzymes (DMEs). Among these, arylamine N-acetyltransferase 2 (NAT2) plays a pivotal role in metabolizing isoniazid (INH). This study investigates the structural and functional effects of NAT2 polymorphisms on INH interactions. Using the 3D structure of wild-type NAT2 (PDB ID: 2PFR) as a template, we employed Chimera, AutoDock, GROMACS, and VMD software for molecular docking and dynamic simulations. Five common coding SNPs in NAT2—G191A, T341C, G590A, A803G, and G857A—were combined to produce 15 mutant NAT2 variants. The DNA sequences of 12 TB patients from a public health center in Surabaya, Indonesia, were used to correlate acetylator phenotypes with the INH blood levels. The molecular docking analysis revealed that the binding affinity of INH to wild-type NAT2 was -5.7 kcal/mol, which is similar to most mutants. Minor variations were observed among the mutants, with affinities ranging from -5.6 to -5.7 kcal/mol. Mutants 2, 6, 8, 9, 10, 12, 14, and 15 (rapid acetylators) showed a decrease in interaction with residue G124, while new binding with residue L288 was identified in mutants 1, 3, 4, 5, and 7 (slow acetylators). These discrepancies in interactions point to a structural foundation for disparities in acetylation rates and enzyme activity. Correlations between the INH–NAT2 interaction patterns and patient acetylator phenotypes revealed distinct impacts on INH blood levels, highlighting potential implications for DR-TB treatment outcomes and AT-DILI risk.

Increased expression of fibroblast growth factor receptor increases the downstream signal. Therefore, the pathways involved in cell proliferation, differentiation, inhibition of apoptosis, and migration are activated. In this study, the relationship between single nucleotide polymorphism rs2981582 of fibroblast growth factor receptor 2 gene and its relationship with breast cancer was studied.

Procedure: 

Five cc of peripheral blood were collected in EDTA tubes. The samples were transferred to -20 C freezer and kept at this temperature until DNA extraction. Iriazol kit was used for DNA extraction in this study. Extraction was performed according to the protocol of the kit. Determining the quality and also the concentration of extracted DNA was carried out through a spectrophotometer and electrophoresis of the samples on a 1% agarose gel. The samples were genotyped by RFLP-PCR method and AciI restriction enzyme at rs2981582 C/T position.

There is a significant relationship between TT genotype and disease. On the other hand, due to the higher frequency of the CC genotype in the control group, this genotype probably has a protective effect on contracting the disease. Likewise, the risk of breast cancer in patients carrying CT+TT genotypes was about three times. 

Genetic changes in some genes can increase the sensitivity to breast cancer. Concerning the significance of rs2981582 single nucleotide polymorphism in relation to breast cancer, this single nucleotide polymorphism can be used as a biomarker to predict breast cancer.

The current study investigated the impact of growth hormone (GH) and polymorphism of calpain genes (CAPN1) on the changes in live weight and qualitative and quantitative indicators of meat productivity of young Kazakh White-headed cattle. CAPN1 polymorphism is represented by two alleles, C and G, with a frequency of 0.12 and 0.88, three genotypes, CC, CG, GG, with a frequency of 0.06, 0.81, and 0.13, respectively. GH polymorphism - V and L alleles, with a frequency of 0.40 and 0.60, and VV, LV, and LL genotypes with a frequency of 0.31, 0.51, and 0.18, respectively. The CAPN1C and GHV alleles are preferred for improving the quantity and quality of meat productivity of the Kazakh white-headed cattle. Animals with the CAPN1CC and GHVV genotypes had a 6.9% higher body weight at 12 months of age (P

A new structure related to previously reported structure of 12-tungstoborate Keggin-type polyoxometalate, K5[BW12O40], was synthesized and its characterization by single crystal X-ray diffraction shows the polymorph structure. Further attempts have been performed to provide three component compounds based on L-proline, lanthanoid cation and K5[BW12O40] (BW12 (II)) under hydrothermal conditions which is rarely reported in hybrid materials rather than other Keggin types. The proposed general structures contain lanthanoid dimers with amino acid bridges and BW12 (II), which characterized by elemental analysis, FT-IR spectroscopy and ICP (Inductively coupled plasma) method. Various types of interactions are established, depending on the POM shape and charge, the amino acid side chain, peptide sequence or protein structure. Experimental conditions such as temperature, acidity, solvent, etc. are also important factors that influence the binding/reactivity of POM with biomolecules, as described recently [13]. This understanding allows the adequate design of the POM-biomolecule couple for tailoring and controlling mechanisms of action such as catalysis, inhibition, and aggregation, or the crystallizing agent.