Epigenetic insights into Fragile X Syndrome DOI Creative Commons

Liangqun Xie,

Huiying Li,

MengLiang Xiao

и другие.

Frontiers in Cell and Developmental Biology, Год журнала: 2024, Номер 12

Опубликована: Авг. 16, 2024

Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in abnormal expansion CGG trinucleotide repeat sequence at 5′end FMR1 gene. When repetition exceeds 200 times, it causes silencing gene, leading to absence encoded mental retardation protein 1 (FMRP). Although detailed mechanism by which triggers gene yet be fully elucidated, known that this process does not alter promoter region or coding This discovery provides scientific basis for potential reversal through interventional approaches, thereby improving symptoms FXS. Epigenetics, regulation depend on changes DNA sequence, has become new focus FXS research modulating expression reversible manner. latest progress molecular genetics revealed epigenetics plays key role pathogenesis pathophysiological processes article compiles existing findings aim deepening understanding identify targets therapeutic strategies.

Язык: Английский

METTL3-mediated N6-methyladenosine modification contributes to vascular calcification DOI Creative Commons
Long Li, Qing Chai,

Chunling Guo

и другие.

Journal of Molecular and Cellular Cardiology, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Vascular calcification (VC) is a major adverse cardiovascular event in chronic kidney disease (CKD) patients. N6-methyladenosine (m6A) modification vital for many biological processes, but its function and possible molecular mechanisms VC are poorly understood. This study aimed to clarify the of N6-adenosine-methyltransferase-like 3 (METTL3) VC. The results bioinformatic analysis showed that METTL3 expression was significantly upregulated calcified VSMCs. finding corroborated by phosphate-induced VSMCs models 5/6 nephrectomy-induced CKD mouse models. Afterward, Alizarin Red S staining m6A dot blot demonstrated overexpression elevated levels encouraged aortic rings, while knockdown decreased inhibited calcium deposition these experimental Furthermore, promoted via PTEN/AKT pathway, MeRIP verified induced PTEN mRNA degradation modifying it with m6A. In addition, docking simulations DARTS assays revealed quercetin natural small-molecule inhibitor METTL3. current investigation mitigated reducing METTL3-dependent vivo vitro. conclusion, this unraveled pathogenic mechanism METTL3-mediated provided new insights establish as therapeutic target

Язык: Английский

Процитировано

0

Advances in the mechanisms of vascular calcification in chronic kidney disease DOI
Ziyang Wang,

Zebin Gui,

Lirong Zhang

и другие.

Journal of Cellular Physiology, Год журнала: 2024, Номер 240(1)

Опубликована: Окт. 11, 2024

Abstract Vascular calcification (VC) is common in patients with advanced chronic kidney disease (CKD).A series of factors, such as calcium and phosphorus metabolism disorders, uremic toxin accumulation, inflammation oxidative stress cellular senescence, cause osteoblast‐like differentiation vascular smooth muscle cells, secretion extracellular vesicles, imbalance regulatory which together promote the development VC CKD. Recent advances epigenetics have provided better tools for investigation etiology new approaches finding more accurate biomarkers. These not only deepened our understanding pathophysiological mechanisms CKD, but also valuable clues optimization clinical predictors exploration potential therapeutic targets. The aim this article to provide a comprehensive overview pathogenesis CKD VC, especially made recent years, including various key factors mentioned above. Through analysis, we expect solid theoretical foundation research direction future studies targeting specific establishment predictive indicators strategies.

Язык: Английский

Процитировано

1

Epigenetic insights into Fragile X Syndrome DOI Creative Commons

Liangqun Xie,

Huiying Li,

MengLiang Xiao

и другие.

Frontiers in Cell and Developmental Biology, Год журнала: 2024, Номер 12

Опубликована: Авг. 16, 2024

Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in abnormal expansion CGG trinucleotide repeat sequence at 5′end FMR1 gene. When repetition exceeds 200 times, it causes silencing gene, leading to absence encoded mental retardation protein 1 (FMRP). Although detailed mechanism by which triggers gene yet be fully elucidated, known that this process does not alter promoter region or coding This discovery provides scientific basis for potential reversal through interventional approaches, thereby improving symptoms FXS. Epigenetics, regulation depend on changes DNA sequence, has become new focus FXS research modulating expression reversible manner. latest progress molecular genetics revealed epigenetics plays key role pathogenesis pathophysiological processes article compiles existing findings aim deepening understanding identify targets therapeutic strategies.

Язык: Английский

Процитировано

0