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Molecular Genetics in Obesity and Metabolic Syndrome
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Molecular Genetics in Obesity and Metabolic Syndrome

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 May 2025 | Viewed by 1607

Special Issue Editors

Dr. Emina Colak

E-Mail Website
Guest Editor
Department for Scientific Research and Education Institute of Medical Biochemistry, Clinical Centre of Serbia, Visegradska Street No.26, 11000 Belgrade, Serbia
Interests: oxidative stress; antioxidant defense; obesity; metabolic syndrome; type 2 diabetes mellitus; age-related disorders
Dr. Aleksandra Jotic

E-Mail Website
Guest Editor
Faculty of Medicine, University of Belgrade, Clinic for Endocrinology, Diabetes and Metabolic Disorders, University Clinical Centre of Serbia, 11000 Belgrade, Serbia
Interests: gestational diabetes; metabolic disorders; diabetes cell therapy

Special Issue Information

Dear Colleagues,

Obesity is a serious medical condition defined as the excessive accumulation of fat. Obesity and metabolic syndrome are closely interrelated and are influenced by many factors, such as genetic, environmental, and lifestyle factors, as well as others. The clustering of metabolic traits that include central obesity, abnormal glucose regulation, dyslipidemia, and elevated blood pressure, known as metabolic syndrome, is associated with increased risk of cardiovascular disease and diabetes mellitus type 2. Genetically modified mice models and the identification of causative genes for human monogenic obesity/insulin resistance syndrome provides important insights into the pathogenesis of this metabolic syndrome. Recent genome-wide association studies (GWASs) have also identified several genes associated with the metabolic syndrome, including genes involved in lipid metabolism (CETP, APOA1/C3/A4/A5 cluster, LPL, LIPC, and ABCB11), glucose sensing (GCKR), insulin signaling (IRS1), beta-cell function (TCF7L2), and appetite control (FTO). The assessment of the association of genetic factors with obesity and metabolic syndrome will help to identify individuals at increased risk and develop preventive strategies and a personalized approach for the better management of these conditions.

The Special Issue aims to present research articles and comprehensive reviews that provide the most updated explanations concerning obesity and metabolic syndrome. Research areas may include, but are not limited to, the following: a) the identification of genetic markers associated with obesity and metabolic syndrome; b) the molecular and biochemical mechanisms underlying these conditions; and c) novel approaches for the potential prevention and therapeutic strategies of obesity, metabolic syndrome, and related conditions.

We look forward to receiving your contributions.

Dr. Emina Colak
Dr. Aleksandra Jotic
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics
  • metabolic syndrome
  • insulin resistance
  • obesity
  • dyslipidemia
  • genome-wide association analysis

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Published Papers (2 papers)

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Research

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16 pages, 569 KiB  
Article
Maximal Fat Oxidation During Exercise in Healthy Individuals: Lack of Genetic Association with the FTO rs9939609 Polymorphism
by Teresa García-Pastor, Iván Muñoz-Puente, Miriam Pérez-Pelayo, Isabel Púa, Justin D. Roberts and Juan Del Coso
Genes 2025, 16(1), 4; https://doi.org/10.3390/genes16010004 - 24 Dec 2024
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Abstract
Background/Objectives: Previous studies suggest that there is a genetically determined component of fat oxidation at rest and during exercise. To date, the FTO gene has been proposed as a candidate gene to affect fat oxidation during exercise because of the association of [...] Read more.
Background/Objectives: Previous studies suggest that there is a genetically determined component of fat oxidation at rest and during exercise. To date, the FTO gene has been proposed as a candidate gene to affect fat oxidation during exercise because of the association of the “at-risk” A allele with different obesity-related factors such as increased body fat, higher appetite and elevated insulin and triglyceride levels. The A allele of the FTO gene may also be linked to obesity through a reduced capacity for fat oxidation during exercise, a topic that remains largely underexplored in the current literature. The aim of this study was to analyze the association between the FTO rs9939609 polymorphism with the rate of fat oxidation during exercise and metabolic syndrome criteria in healthy participants. Methods: A total of 80 healthy participants (41 men and 39 women) underwent comprehensive assessments, including measurements of anthropometric variables, blood pressure and blood measures of fasting glucose, triglycerides, low- and high-density lipoprotein cholesterol (LDL-c and HDL-c), insulin, interleukin-6 (IL-6) and C-reactive protein (CRP) concentrations. Additionally, the Homeostatic Model Assessment (HOMA-IR) was used to evaluate insulin resistance. Peak oxygen uptake (VO2peak) and maximal fat oxidation rate (MFO) were also measured during an incremental cycling test. FTO rs9939609 genotyping (TT, AT, AA) was performed using genomic DNA samples obtained from a buccal swab and measured with PCR. Results: There were 32 participants (40.0%) with the TT genotype; 31 (38.8%) with the AT genotype; and 17 (21.2%) with the AA genotype. Age, body characteristics, VO2peak, blood pressure and blood variables were similar across all three genotypes. However, serum insulin concentration and HOMA-IR were associated with the FTO rs9939609 genotype with higher values in AA with respect to AT and TT participants (p < 0.050). Still, MFO was similar in TT, AT and AA participants (0.35 ± 0.13, 0.37 ± 0.11, 0.33 ± 0.11 g/min, p = 0.702). In the dominant model, there was no statistical difference between TT and A allele carriers. However, the recessive model revealed that AA participants had higher values of body mass, body mass index, blood insulin concentration and HOMA-IR than T allele carriers (p < 0.050), with no differences in MFO. Conclusions: In our sample of healthy individuals, the FTO rs9939609 polymorphism was associated with several phenotypes associated with obesity and insulin resistance, particularly under the AA vs. T allele/recessive model. However, the FTO rs9939609 polymorphism was not associated with MFO during exercise as fat oxidation was similar across genotypes. This suggests that reduced fat oxidation during exercise is unlikely to be a cause of the obesogenic influence of the FTO AA genotype. Clinically, these findings suggest that the obesogenic effects of the FTO AA genotype are unlikely driven by impaired fat oxidation during exercise. Instead, attention should focus on mechanisms like appetite regulation and energy intake. Moreover, exercise interventions may still effectively mitigate obesity risk, as AA individuals retain normal fat oxidation capacity during exercise. Full article
(This article belongs to the Special Issue Molecular Genetics in Obesity and Metabolic Syndrome)
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Review

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13 pages, 268 KiB  
Review
Interrelation of Oxidative Stress and Genetics in Pathophysiology of Obesity and Obesity-Related Conditions
by Emina Čolak and Lepša Žorić
Genes 2025, 16(5), 489; https://doi.org/10.3390/genes16050489 - 25 Apr 2025
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Abstract
Obesity is a medical condition influenced by many factors and manifested by the excessive accumulation of fat. It is well documented that oxidative stress plays a significant role in the development of obesity and its related diseases. The antioxidant system’s enzymes, such as [...] Read more.
Obesity is a medical condition influenced by many factors and manifested by the excessive accumulation of fat. It is well documented that oxidative stress plays a significant role in the development of obesity and its related diseases. The antioxidant system’s enzymes, such as catalase, superoxide dismutase, glutathione peroxidase, paroxonase, etc., play a significant role in maintaining the oxidant–antioxidant balance in living organisms. Genetic variants of antioxidant system genes may affect the antioxidant system and its efficacy, which can lead to increased oxidative stress and higher risk for the development of obesity and its comorbidities. This review is focused on genetic variants such as single nucleotide polymorphisms of some antioxidant enzymes, ROS generators and transcription factors, and their impact on increased oxidative stress and the development of obesity and medical conditions related to obesity, like insulin resistance and metabolic syndrome. Full article
(This article belongs to the Special Issue Molecular Genetics in Obesity and Metabolic Syndrome)
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