Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases
Front Biosci (Schol Ed). 2024 Mar 1;16(1):4. doi: 10.31083/j.fbs1601004.ABSTRACTGenome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5' and 3' UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the molecular recognition of the cis-regulatory elements, leading to gene dysregulation. However, determining causality between non-coding v...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Edwin G Pe ña-Martínez Jos é A Rodríguez-Martínez Source Type: research
Mitochondrial Dysfunction as a Factor of Energy Metabolism Disorders in Type 2 Diabetes Mellitus
Front Biosci (Schol Ed). 2024 Mar 8;16(1):5. doi: 10.31083/j.fbs1601005.ABSTRACTThe pathogenesis of type 2 diabetes mellitus (T2DM) is based on the development of insulin resistance, which is a disruption to the ability of the tissues to bind to insulin, leading to a general metabolic disorder. Mitochondria are the main participants in cellular energy metabolism, meaning their dysfunction is associated with the development of insulin resistance in T2DM. Mitochondrial function is affected by insulin resistance in various tissues, including skeletal muscle and the liver, which greatly influence glucose homeostasis throughout...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Alexander Blagov Ludmila Nedosugova Tatiana Kirichenko Vasily Sukhorukov Alexandra Melnichenko Alexander Orekhov Source Type: research
The Significance of Lipoproteins in the Development of Obesity
Front Biosci (Schol Ed). 2024 Mar 18;16(1):8. doi: 10.31083/j.fbs1601008.ABSTRACTDisruption of lipoprotein metabolism plays an important role in the development of several cardiovascular, inflammatory, and metabolic diseases. This review examines the importance of different types of lipoproteins and the role they play in the development of dyslipidemia in obesity. The causes and consequences associated with the disruption of lipid metabolism and its significance in the pathogenesis of obesity are considered. The relationship between such pathological processes, which occur alongside obesity as dyslipidemia and inflammation...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Alexander Blagov Konstantin Rufanov Khokhlova Irina Vasily Sukhorukov Andrey Goncharov Elizaveta Pleshko Alexander Orekhov Source Type: research
CpG Islands, Gene Expression and Pseudogenization: A Case for a Potential Trilogy
CONCLUSIONS: We inferred that perhaps tissue-specific genes are more prone to the process of pseudogenization. In this way, because of their impact on gene expression, CGIs may affect the fate of a gene. To our knowledge, this is the first study to propose a connection between CGIs, gene expression, and the pseudogenization process and discuss the evolutionary implications of this potential trilogy.PMID:38538343 | DOI:10.31083/j.fbs1601002 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Ammad Aslam Khan Anees Fatima Source Type: research
A New Leu714Arg Variant in the Converter Domain of < em > MYH7 < /em > is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy
CONCLUSIONS: This case presents a new likely pathogenic variant in MYH7 and supports the hypothesis that myosin converter mutations constitute a subclass of HCM mutations with a poor prognosis for the patient.PMID:38538344 | DOI:10.31083/j.fbs1601001 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Maria V Golubenko Elena N Pavlyukova Ramil R Salakhov Oksana A Makeeva Konstantin V Puzyrev Oleg S Glotov Valery P Puzyrev Maria S Nazarenko Source Type: research
Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians
Front Biosci (Schol Ed). 2024 Feb 29;16(1):3. doi: 10.31083/j.fbs1601003.ABSTRACTAge-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Julia Nguyen Milam A Brantley Stephen G Schwartz Source Type: research
The Relationship between Mitochondrial Genome Mutations in Monocytes and the Development of Obesity and Coronary Heart Disease
CONCLUSIONS: It was revealed that some variants of mitochondrial DNA (mtDNA) heteroplasmy are associated with CVD risk factors. The results demonstrate the potential for using these molecular genetic markers to develop personalized CVD and metabolic disorder treatments.PMID:38538346 | DOI:10.31083/j.fbs1601006 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Taisiya V Tolstik Tatiana V Kirichenko Anastasia I Bogatyreva Yuliya V Markina Vladislav A Kalmykov Alexander M Markin Source Type: research
A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations
Front Biosci (Schol Ed). 2024 Mar 14;16(1):7. doi: 10.31083/j.fbs1601007.ABSTRACTDisorders of mitochondrial function are responsible for many inherited neuromuscular and metabolic diseases. Their combination of high mortality, multi-systemic involvement, and economic burden cause devastating effects on patients and their families. Molecular diagnostic tools are becoming increasingly important in providing earlier diagnoses and guiding more precise therapeutic treatments for patients suffering from mitochondrial disorders. This review addresses fundamental molecular concepts relating to the pathogenesis of mitochondrial dys...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Jude M Abadie Source Type: research
Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases
Front Biosci (Schol Ed). 2024 Mar 1;16(1):4. doi: 10.31083/j.fbs1601004.ABSTRACTGenome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5' and 3' UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the molecular recognition of the cis-regulatory elements, leading to gene dysregulation. However, determining causality between non-coding v...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Edwin G Pe ña-Martínez Jos é A Rodríguez-Martínez Source Type: research
Mitochondrial Dysfunction as a Factor of Energy Metabolism Disorders in Type 2 Diabetes Mellitus
Front Biosci (Schol Ed). 2024 Mar 8;16(1):5. doi: 10.31083/j.fbs1601005.ABSTRACTThe pathogenesis of type 2 diabetes mellitus (T2DM) is based on the development of insulin resistance, which is a disruption to the ability of the tissues to bind to insulin, leading to a general metabolic disorder. Mitochondria are the main participants in cellular energy metabolism, meaning their dysfunction is associated with the development of insulin resistance in T2DM. Mitochondrial function is affected by insulin resistance in various tissues, including skeletal muscle and the liver, which greatly influence glucose homeostasis throughout...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Alexander Blagov Ludmila Nedosugova Tatiana Kirichenko Vasily Sukhorukov Alexandra Melnichenko Alexander Orekhov Source Type: research
The Significance of Lipoproteins in the Development of Obesity
Front Biosci (Schol Ed). 2024 Mar 18;16(1):8. doi: 10.31083/j.fbs1601008.ABSTRACTDisruption of lipoprotein metabolism plays an important role in the development of several cardiovascular, inflammatory, and metabolic diseases. This review examines the importance of different types of lipoproteins and the role they play in the development of dyslipidemia in obesity. The causes and consequences associated with the disruption of lipid metabolism and its significance in the pathogenesis of obesity are considered. The relationship between such pathological processes, which occur alongside obesity as dyslipidemia and inflammation...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Alexander Blagov Konstantin Rufanov Khokhlova Irina Vasily Sukhorukov Andrey Goncharov Elizaveta Pleshko Alexander Orekhov Source Type: research
CpG Islands, Gene Expression and Pseudogenization: A Case for a Potential Trilogy
CONCLUSIONS: We inferred that perhaps tissue-specific genes are more prone to the process of pseudogenization. In this way, because of their impact on gene expression, CGIs may affect the fate of a gene. To our knowledge, this is the first study to propose a connection between CGIs, gene expression, and the pseudogenization process and discuss the evolutionary implications of this potential trilogy.PMID:38538343 | DOI:10.31083/j.fbs1601002 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Ammad Aslam Khan Anees Fatima Source Type: research
A New Leu714Arg Variant in the Converter Domain of < em > MYH7 < /em > is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy
CONCLUSIONS: This case presents a new likely pathogenic variant in MYH7 and supports the hypothesis that myosin converter mutations constitute a subclass of HCM mutations with a poor prognosis for the patient.PMID:38538344 | DOI:10.31083/j.fbs1601001 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Maria V Golubenko Elena N Pavlyukova Ramil R Salakhov Oksana A Makeeva Konstantin V Puzyrev Oleg S Glotov Valery P Puzyrev Maria S Nazarenko Source Type: research
Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians
Front Biosci (Schol Ed). 2024 Feb 29;16(1):3. doi: 10.31083/j.fbs1601003.ABSTRACTAge-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some...
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Julia Nguyen Milam A Brantley Stephen G Schwartz Source Type: research
The Relationship between Mitochondrial Genome Mutations in Monocytes and the Development of Obesity and Coronary Heart Disease
CONCLUSIONS: It was revealed that some variants of mitochondrial DNA (mtDNA) heteroplasmy are associated with CVD risk factors. The results demonstrate the potential for using these molecular genetic markers to develop personalized CVD and metabolic disorder treatments.PMID:38538346 | DOI:10.31083/j.fbs1601006 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Taisiya V Tolstik Tatiana V Kirichenko Anastasia I Bogatyreva Yuliya V Markina Vladislav A Kalmykov Alexander M Markin Source Type: research
