Epigenetics in disease etiopathogenesis

Glavaški, Mila; Stankov, Karmen

doi:10.2298/gensr1903975g

Cited by 1 publication

(3 citation statements)

References 74 publications

(81 reference statements)

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“…Modifications of gene expression in the absence of alterations in the genetic code are referred to as epigenetics [ 142 , 143 ]. Epigenetics refers to modifiers that have a role in switching genes “off” and “on” [ 142 ].…”

Section: Disease Modifiersmentioning

confidence: 99%

“…Epigenetics refers to modifiers that have a role in switching genes “off” and “on” [ 142 ]. These changes in gene expression are mediated by DNA methylation/demethylation, histone modification, nucleosome positioning, and non-coding RNA-mediated modifications [ 142 , 143 ]. The effects of various environmental factors arise through alterations in the epigenome [ 76 , 143 ].…”

Section: Disease Modifiersmentioning

confidence: 99%

“…miRNA is a negative regulator, operating through complementary mRNA silencing [ 142 , 143 ]. Concentrations of miRNA change during various phases of HCM [ 3 , 142 ], so there is a potential for them to serve as severity markers in the course of HCM [ 142 ].…”

Section: Disease Modifiersmentioning

confidence: 99%

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Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers

2023

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Hypertrophic cardiomyopathy (HCM) is the most prevalent heritable cardiomyopathy. HCM is considered to be caused by mutations in cardiac sarcomeric protein genes. Recent research suggests that the genetic foundation of HCM is much more complex than originally postulated. The clinical presentations of HCM are very variable. Some mutation carriers remain asymptomatic, while others develop severe HCM, terminal heart failure, or sudden cardiac death. Heterogeneity regarding both genetic mutations and the clinical course of HCM hinders the establishment of universal genotype–phenotype correlations. However, some trends have been identified. The presence of a mutation in some genes encoding sarcomeric proteins is associated with earlier HCM onset, more severe left ventricular hypertrophy, and worse clinical outcomes. There is a diversity in the mechanisms implicated in the pathogenesis of HCM. They may be classified into groups, but they are interrelated. The lack of known supplementary elements that control the progression of HCM indicates that molecular mechanisms that exist between genotype and clinical presentations may be crucial. Secondary molecular changes in pathways implicated in HCM pathogenesis, post-translational protein modifications, and epigenetic factors affect HCM phenotypes. Cardiac loading conditions, exercise, hypertension, diet, alcohol consumption, microbial infection, obstructive sleep apnea, obesity, and environmental factors are non-molecular aspects that change the HCM phenotype. Many mechanisms are implicated in the course of HCM. They are mostly interconnected and contribute to some extent to final outcomes.

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Section: Disease Modifiersmentioning

confidence: 99%