Atherosclerosis-related cardiovascular diseases remain the leading cause of morbidity and mortality, and the search for novel diagnostic and therapeutic methods is ongoing. Mitochondrial DNA (mtDNA) mutations associated with atherosclerosis represent one of the less explored aspects of the disease pathogenesis that may bring some interesting opportunities for establishing novel molecular markers and, possibly, new points of therapeutic intervention. Recent studies have identified a number of mtDNA mutations, for which the heteroplasmy level was positively or negatively associated with atherosclerosis, including the disease at its early, subclinical stages. In this review, we summarize the results of these studies, providing a list of human mtDNA mutations potentially involved in atherosclerosis. The molecular mechanisms underlying such involvement remain to be elucidated, although it is likely that some of them may be responsible for the increased oxidative stress, which plays an important role in atherosclerosis.
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http://dx.doi.org/10.3390/biom9080377 | DOI Listing |
Sci Transl Med
January 2025
Graduate Program in Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue (M-860), Miami, FL 33136, USA.
Primary mitochondrial disorders are most often caused by deleterious mutations in the mitochondrial DNA (mtDNA). Here, we used a mitochondrial DddA-derived cytosine base editor (DdCBE) to introduce a compensatory edit in a mouse model that carries the pathological mutation in the mitochondrial transfer RNA (tRNA) alanine (mt-tRNA) gene. Because the original m.
View Article and Find Full Text PDFDiabetol Int
January 2025
Department of Endocrinology and Diabetes, School of Medicine, Saitama Medical University, 38 Morohongo, Moroyamamachi, Iruma-Gun, Saitama, 350-0495 Japan.
Slowly progressive type 1 diabetes mellitus (SPIDDM), solely positive for zinc transporter 8 autoantibody (ZnT8A) is rare, and the factors involved in the single positivity remain largely unknown. Thus, this case report aimed to infer the factors based on a literature review. A 40-year-old female was hospitalized for hyperglycemia.
View Article and Find Full Text PDFHeliyon
January 2025
Unit of Medical Genetics, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Sudden cardiac death (SCD) is a major health concern, which can be the sign of a latent mitochondrial disease. However, mitochondrial DNA (mtDNA) contribution is largely unexplored in SCD at population level. Recently, mtDNA variants have been associated with congenital cardiopathy and higher risk of ischemic heart disease, suggesting them as potential risk factors also in SCD.
View Article and Find Full Text PDFFront Plant Sci
January 2025
Bio-resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing Institute of Medicinal Plant Cultivation, Nanchuan, Chongqing, China.
Introduction: Mitochondria are essential organelles that provide energy for plants. They are semi-autonomous, maternally inherited, and closely linked to cytoplasmic male sterility (CMS) in plants. , a widely used medicinal plant from the Caprifoliaceae family, is rich in chlorogenic acid (CGA) and its analogues, which are known for their antiviral and anticancer properties.
View Article and Find Full Text PDFJ Mol Diagn
January 2025
Department of Cardiology, Xinqiao Hospital, Third Military Medical University (Army Medical University), Chongqing, China. Electronic address:
Previous studies have reported that mitochondrial DNA copy number (mtDNA-CN) of blood was associated with a series of aging-related diseases. However, it remains unknown whether mtDNA-CN can be a potential biomarker of acute aortic syndromes (AASs). The mtDNA-CN in blood of 190 male patients with AAS and 207 healthy controls were detected by standardized real-time quantitative PCR-based assay.
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