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1.
Balkan J Med Genet ; 24(1): 35-40, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34447657

ABSTRACT

Obesity has become a serious global problem that still needs a solution. One of the factors that leads to obesity is genetic predisposition. The identity and characteristics of the genes involved have not yet been fully confirmed. Analyzing the genetic contribution to obesity is a major step towards the solution. In this in silico study, using online bioinformatics tools, we evaluate the role of four genes that are believed to contribute to obesity. Data were collected and analyzed for the sequences of four so-called obesity genes: FTO (fat mass and obesity-associated protein), PPARG (peroxisome proliferator activated receptor γ), ADRB3 (adrenergic receptor ß 3) and FABP2 (fatty acid binding protein 2). In the first part of the research, information about the genes was collected and organized and data in FASTA, format are extracted from the National Center for Biotechnology Information (NCBI). In the second part, all genes were analyzed by comparing three species of organisms, Homo sapiens (human), Mus musculus (mouse) and Gallus (chicken). In the third part of this study, phylogenetic trees were constructed for each of the four genes, using blast local alignment search tool (BLAST) and molecular evolutionary genetics analysis (MEGA X) software. Our analysis reveals that the functions of all these genes are associated with overweight and obesity.

2.
Balkan J Med Genet ; 19(2): 75-80, 2016 Dec 01.
Article in English | MEDLINE | ID: mdl-28289592

ABSTRACT

Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS). Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were included in this survey. Sixty of them were stress-free (NN), 11 were heterozygous carriers (Nn) and two animals were homozygous (nn) for the 1843 (C>T) mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK), lactate dehydrogenase (LDH), alkaline phosphatase (AP) and aspartate aminotransferase (AST). Regarding the maternal traits, our study showed that stress susceptible animals (nn) have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.

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