Cardiomyopathies represent a wide and heterogeneous group of diseases wherein a genetic cause has been consistently identified.Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and progressive systolic dysfunction, and it is the most common form of cardiomyopathy.Causative genetic mutations have been identified in more than 40 genes encoding proteins belonging to different cellular structures and pathways.A great diversity of pathways has been implied in the pathogenesis of DCM, depending on the affected genes and on the dislodged intracellular structures or mechanisms.This review describes the major genes and focus on the pathophysiologic mechanisms of DCM, with a special consideration of the most recent discoveries in the field.
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http://dx.doi.org/10.2459/JCM.0000000000000432 | DOI Listing |
Heliyon
January 2025
Xinjiang Key Laboratory of Biological Resources and Genetic Engineering, College of Life Science and Technology, Xinjiang University, Urumqi, Xinjiang, 830046, China.
Statins are widely used for treating lipid disorders and cardiovascular diseases. However, the therapeutic efficiency and adverse effects of statins vary among different patients, which numerous clinical and epidemiological studies have attributed to genetic polymorphisms in statin-metabolizing enzymes and transport proteins. The metabolic processes of statins are relatively complex, involving spontaneous or enzyme-catalyzed interconversion between more toxic lactone metabolites and active acid forms in the liver and bloodstream, influenced by multiple factors, including the expression levels of many metabolic enzymes and transporters.
View Article and Find Full Text PDFBiochemistry (Mosc)
December 2024
Faculty of Chemistry, Lomonosov Moscow State University, Moscow, 119991, Russia.
Identification and analysis of repetitive elements (motifs) in DNA, RNA, and protein macromolecules is an important step in studying structure and functions of these biopolymers. Functional role of NA-BSE (non-adjacent base-stacking element, a widespread tertiary structure motif in various RNAs) in RNA-RNA interactions at various stages of the ribosome function during translation has been investigated in this work. Motifs of this type have been described to date that are reversibly formed during mRNA decoding, moving of the ribosome subunits relative to each other, and moving mRNA and tRNA along the ribosome during translocation.
View Article and Find Full Text PDFPathogens
January 2025
Center for Advanced Molecular Detection, 59th Medical Wing/Science & Technology, Joint Base San Antonio, Lackland, TX 78236, USA.
Background: Respiratory viral infections are a major public health challenge and the most diagnosed medical condition, particularly for individuals living in close proximity, like military personnel. We compared the sensitivity and specificity of the Biomeme Franklin and Truelab RT-PCR thermocyclers to determine which platform is more sensitive and specific at detecting SARS-CoV-2 and influenza A and B viruses.
Methodology: RNA extracted from nasopharyngeal swabs of infected and uninfected individuals was tested on the Biomeme Franklin at Lackland and the Truelab at Wright Patterson Air Force bases.
Microorganisms
January 2025
Scientific and Educational Center, Molecular Bases of Interaction of Microorganisms and Human of the Center for Personalized Medicine of Federal State Budgetary Scientific Institution, Institute of Experimental Medicine, Acad. Pavlov Street, 12, 197022 Saint Petersburg, Russia.
Background: Cancer remains a leading cause of mortality globally. Conventional treatment modalities, including radiation and chemotherapy, often fall short of achieving complete remission, highlighting the critical need for novel therapeutic strategies. One promising approach involves the oncolytic potential of Group A (GAS) strains for tumor treatment.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.
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