Frontiers in Bioscience-Scholar最新文献

Transcriptional Regulation of the Lineage-Determining Gene PU.1 in Normal and Malignant Hematopoiesis: Current Understanding and Therapeutic Perspective 正常和恶性造血过程中系决定基因 PU.1 的转录调控：当前认识与治疗前景

Frontiers in Bioscience-Scholar Pub Date : 2024-05-06 DOI: 10.31083/j.fbs1602010

Emilia A. Korczmar, Anna K. Bookstaver, Ellison Ober, Adam N. Goldfarb, D. G. Tenen, B. Trinh

引用次数: 0

The Significance of Lipoproteins in the Development of Obesity 脂蛋白在肥胖症发病过程中的意义

Frontiers in Bioscience-Scholar Pub Date : 2024-03-18 DOI: 10.31083/j.fbs1601008

A. Blagov, Konstantin Rufanov, Khokhlova Irina, Vasily Sukhorukov, Andrey Goncharov, E. Pleshko, A. Orekhov

引用次数: 0

A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations 线粒体疾病的双基因组描述：临床表现回顾

Frontiers in Bioscience-Scholar Pub Date : 2024-03-14 DOI: 10.31083/j.fbs1601007

Jude M. Abadie

{"title":"A Two-Genome Portrayal of Mitochondrial Disorders: A Review with Clinical Presentations","authors":"Jude M. Abadie","doi":"10.31083/j.fbs1601007","DOIUrl":"https://doi.org/10.31083/j.fbs1601007","url":null,"abstract":"Disorders 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 dysfunction and disorders. A series of short cases highlights the various clinical presentations, inheritance patterns, and pathogenic mutations in nuclear and mitochondrial genes that cause mitochondrial diseases. Graphical and tabular representations of the results are presented to guide the understanding of the important concepts related to mitochondrial molecular genetics and pathology. Emerging technology is incorporating preimplantation genetic testing for mtDNA disorders, while mitochondrial replacement shows promise in significantly decreasing the transfer of diseased mitochondrial DNA (mtDNA) to embryos. Medical professionals must maintain an in-depth understanding of the gene mutations and molecular mechanisms underlying mitochondrial disorders. Continued diagnostic advances and comprehensive management of patients with mitochondrial disorders are essential to achieve robust clinical impacts from comprehensive genomic testing. This is especially true when supported by non-genetic tests such as biochemical analysis, histochemical stains, and imaging studies. Such a multi-pronged investigation should improve the management of mitochondrial disorders by providing accurate and timely diagnoses to reduce disease burden and improve the lives of patients and their families","PeriodicalId":510139,"journal":{"name":"Frontiers in Bioscience-Scholar","volume":"77 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140241736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Relationship between Mitochondrial Genome Mutations in Monocytes and the Development of Obesity and Coronary Heart Disease 单核细胞线粒体基因组突变与肥胖症和冠心病发病之间的关系

Frontiers in Bioscience-Scholar Pub Date : 2024-03-13 DOI: 10.31083/j.fbs1601006

T. Tolstik, T. Kirichenko, A. Bogatyreva, Y. Markina, Vladislav A. Kalmykov, A. Markin

{"title":"The Relationship between Mitochondrial Genome Mutations in Monocytes and the Development of Obesity and Coronary Heart Disease","authors":"T. Tolstik, T. Kirichenko, A. Bogatyreva, Y. Markina, Vladislav A. Kalmykov, A. Markin","doi":"10.31083/j.fbs1601006","DOIUrl":"https://doi.org/10.31083/j.fbs1601006","url":null,"abstract":"Background : Metabolic disorders, including obesity, are often accompanied by an increased risk of cardiovascular complications. Monocytes are the common link between obesity and cardiovascular diseases (CVDs). The bias of innate cellular immunity towards pro-inflammatory activation stimulates the development of diseases associated with chronic inflammation, in particular metabolic disorders, including obesity, as well as CVDs. Disorders in the functional state of monocytes and activation of inflammation may be associated with mitochondrial dysfunction. Mutations accumulating in mitochondrial DNA with age may lead to mitochondrial dysfunction and may be considered a potential marker for developing chronic inflammatory diseases. Methods : The present study aimed to study the relationship between mitochondrial heteroplasmy in CD14 + monocytes and cardiovascular risk factors in 22 patients with obesity and coronary heart disease (CHD) by comparing them to 22 healthy subjects. Results : It was found that single-nucleotide variations (SNV) A11467G have a negative correlation with total cholesterol (r = –0.82, p < 0.05), low density lipoproteins (LDL) (r = –0.82, p < 0.05), with age (r = –0.57, p < 0.05) and with mean carotid intima-media thickness (cIMT) (r = –0.43, p < 0.05) and a positive correlation with HDL level (r = 0.71, p < 0.05). SNV 576insC positively correlated with body mass index (BMI) (r = 0.60, p < 0.001) and LDL level (r = 0.43, p < 0.05). SNV A1811G positively correlated with mean cIMT (r = 0.60, p < 0.05). 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.","PeriodicalId":510139,"journal":{"name":"Frontiers in Bioscience-Scholar","volume":"287 1‐2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140247003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases 解码非编码变异：研究非编码变体在基因调控和人类疾病中作用的最新方法

Frontiers in Bioscience-Scholar Pub Date : 2024-03-01 DOI: 10.31083/j.fbs1601004

Edwin G. Peña‐Martínez, José A. Rodríguez-Martínez

引用次数: 0