Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease

Montavon, Brittany; Winter, Linda E.; Gan, Qi; Arasteh, Amirhossein; Montaño, Adriana M.

doi:10.3389/fcvm.2022.829111

Cited by 2 publications

(1 citation statement)

References 89 publications

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“…This so called ‘selectivity’ of α 2 M protein is based on the presence of a polypeptide ‘target’ region in the chemical structure of α 2 M which became attractive for most of the proteolytic peptidases [ 96 , 97 , 98 , 99 ]. In the past, most of the studies related to α 2 M role were focused in exploring hemostasis and thrombosis as critical conditions for patients in intensive care units (ICUs) [ 100 , 101 ]. However, upregulated α 2 M levels have also been associated with other serious chronic diseases: kidney-related and cardiovascular related diseases [ 102 , 103 , 104 , 105 , 106 , 107 , 108 , 109 , 110 ].…”

Section: Resultsmentioning

confidence: 99%

Recent Advances of Proteomics in Management of Acute Kidney Injury

Pejchinovski¹,

Türkkan²,

Pejchinovski

2023

Diagnostics

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Acute Kidney Injury (AKI) is currently recognized as a life-threatening disease, leading to an exponential increase in morbidity and mortality worldwide. At present, AKI is characterized by a significant increase in serum creatinine (SCr) levels, typically followed by a sudden drop in glomerulus filtration rate (GFR). Changes in urine output are usually associated with the renal inability to excrete urea and other nitrogenous waste products, causing extracellular volume and electrolyte imbalances. Several molecular mechanisms were proposed to be affiliated with AKI development and progression, ultimately involving renal epithelium tubular cell-cycle arrest, inflammation, mitochondrial dysfunction, the inability to recover and regenerate proximal tubules, and impaired endothelial function. Diagnosis and prognosis using state-of-the-art clinical markers are often late and provide poor outcomes at disease onset. Inappropriate clinical assessment is a strong disease contributor, actively driving progression towards end stage renal disease (ESRD). Proteins, as the main functional and structural unit of the cell, provide the opportunity to monitor the disease on a molecular level. Changes in the proteomic profiles are pivotal for the expression of molecular pathways and disease pathogenesis. Introduction of highly-sensitive and innovative technology enabled the discovery of novel biomarkers for improved risk stratification, better and more cost-effective medical care for the ill patients and advanced personalized medicine. In line with those strategies, this review provides and discusses the latest findings of proteomic-based biomarkers and their prospective clinical application for AKI management.

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Section: Resultsmentioning

confidence: 99%

Recent Advances of Proteomics in Management of Acute Kidney Injury

Pejchinovski¹,

Türkkan²,

Pejchinovski

2023

Diagnostics

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A Bioinformatics-Based Study on Methylation Alterations of the FBLN1 Gene in Hippocampal Tissue of Alzheimer’s Disease Model DKO and DTG Mice

Tang,

Jian,

et al. 2024

IJMS

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Alzheimer’s disease (AD) is characterized by progressive cognitive decline and late-stage neurobehavioral issues marked by amyloid-beta plaques and Tau protein tangles. This study aims to investigate Fibulin-1(FBLN1) gene expression in the hippocampal tissue of Presenilin-1/Presenilin-2 conditional double-knockout (DKO) and double-transgenic (DTG) mice, using single-cell sequencing and experimental methods to verify abnormal methylation status and correlation with AD. Genomic DNA from DKO and DTG mice was used for genotyping. Reduced Representation Bisulfite Sequencing (RRBS) identified 10 genes with abnormal methylation changes, with protein–protein interaction (PPI) analysis highlighting five core genes, including FBLN1. Single-cell sequencing, RT-PCR, and Western blotting (WB) were used to analyze FBLN1 mRNA and protein levels in the hippocampal tissues of early-stage and mid-stage AD DKO, DTG, and CBAC57 mice. RRBS identified 10 genes with abnormal methylation, with PPI highlighting five core genes. Single-cell sequencing showed significant FBLN1 expression in AD groups. RT-PCR and WB indicated elevated FBLN1 mRNA and protein levels in mid-stage AD DKO and DTG mice compared to CBAC57 mice, with no differences in early-stage AD DKO and CBAC57 mice. RRBS revealed hypomethylation of the FBLN1 gene in mid-stage AD DKO mice. Elevated FBLN1 expression in AD models suggests an age-dependent neurodegenerative mechanism independent of amyloid-beta deposition. This study enhances our understanding of AD’s epigenetic mechanisms, which will aid targeted diagnosis, treatment, and prognosis.

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Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease

Cited by 2 publications

References 89 publications

Recent Advances of Proteomics in Management of Acute Kidney Injury

Recent Advances of Proteomics in Management of Acute Kidney Injury

A Bioinformatics-Based Study on Methylation Alterations of the FBLN1 Gene in Hippocampal Tissue of Alzheimer’s Disease Model DKO and DTG Mice

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