Contribution of Hsa-Mir-146A and Hsa-Mir-223 Gene Variations in Patients with Multiple Sclerosis Reveals Association of Rs2910164 and Rs1044165 with Risk of Multiple Sclerosis Susceptibility

Shareef, Salar; Ebrahimi, Seyed Omar; Reiisi, Somayeh

doi:10.1136/jim-2020-001539

Cited by 4 publications

(2 citation statements)

References 42 publications

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“…MiR-146a and miR-223 dysregulations, found in individuals with miR-146a rs2910164 and miR-223 rs1044165 genotypes, have a higher risk of developing MS. These findings give new insights not only on the role of ncRNAs as implementable new elements in the MS molecular scenario but also on the genetic variants involved in the population affected by the pathology [117].…”

Section: Mirnas As Ms Biomarkersmentioning

confidence: 90%

Multiple Sclerosis: Roles of miRNA, lcnRNA, and circRNA and Their Implications in Cellular Pathways

Cipriano,

Schepici,

Mazzon

et al. 2024

IJMS

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Multiple sclerosis (MS) is a degenerative condition characterized by axonal damage and demyelination induced by autoreactive immune cells that occur in the Central Nervous System (CNS). The interaction between epigenetic changes and genetic factors can be widely involved in the onset, development, and progression of the disease. Although numerous efforts were made to discover new therapies able to prevent and improve the course of MS, definitive curative treatments have not been found yet. However, in recent years, it has been reported that non-coding RNAs (ncRNAs), including microRNAs (miRNAs), long ncRNAs (lncRNAs), and circular RNAs (circRNAs), acting as gene expression regulators, could be used as potential therapeutic targets or biomarkers to diagnose and fight MS. In this review, we discussed the role of miRNAs, lncRNAs, and circRNAs, as well as their expression level changes and signaling pathways that are related to preclinical and human MS studies. Hence, the investigation of ncRNAs could be important to provide additional information regarding MS pathogenesis as well as promote the discovery of new therapeutic strategies or biomarkers.

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Section: Mirnas As Ms Biomarkersmentioning

confidence: 90%

Multiple Sclerosis: Roles of miRNA, lcnRNA, and circRNA and Their Implications in Cellular Pathways

Cipriano,

Schepici,

Mazzon

et al. 2024

IJMS

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show abstract

“…There is now ample evidence in a range of different diseases including pre-eclampsia (Li et al, 2021), type 2 diabetes (Yan et al, 2021), lung fibrosis after lung transplantation (Wang et al, 2020), non-alcoholic fatty liver disease (López-Sánchez et al, 2021), liver cancer (Ghafouri-Fard et al, 2021) and multiple sclerosis (Shareef et al, 2021), that polymorphisms in the relevant miRNA can confer susceptibility and determine the effectiveness of suppression of gene expression. In addition, polymorphisms in the miRNA binding domain of target gene regions play a role in diseases such as colorectal cancer where SNPs in the solute carrier transporter gene predict clinical outcome in colorectal cancer (Bendova et al, 2020) and the KRT81 gene in breast cancer (Sha et al, 2020).…”

Section: Micro-rna Moleculesmentioning

confidence: 99%

The importance of establishing genetic phase in clinical medicine

Tait

2021

Int J Immunogenetics

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Haplotyping or determination of genetic phase has always played a pivotal role in MHC (HLA studies) both in helping to understand inheritance patterns in diseases such as type 1 diabetes (T1D) and in ensuring better matching in transplantation scenarios such as haematopoietic stem cell transplantation (HSCT), using donors genetically related to the patient. In recent years the need to establish genetic phase in a number of clinical scenarios has become apparent. These include:1. Genetic phasing for hematopoietic stem cell transplants using unrelated donors, where the HLA haplotypes are not known but where haplotype-matched recipients fare better clinically than allele matched, but haplotype mismatched patients.2. The use of checkpoint inhibitors is one of the most innovative and exciting developments in cancer treatment in years. An example is the use of the monoclonal ipilimumab to block the CTLA-4 receptor which is known to contain polymorphic sites.Until the phase of these polymorphisms is known it will not be possible to determine how effectively this monoclonal will perform in individual patients.3. The role of miRNA single strand molecules and their effect on gene expression. Thousands of non-coding genes have been identified and have been shown to be polymorphic, as have their target genes. Genetic phasing of polymorphism both in the miRNA source genes and their targets is clearly a fertile area of research 4. In areas such a drug metabolism where the polymorphic family of CYP genes is responsible for the metabolism of the majority of prescription drugs, determining phase of SNPs is critical to understanding drug metabolism and efficacy. 5. In multigenic disease studies combinations of single nucleotide polymorphisms (SNPs) in participating genes require accurate phasing in order to fully appreciate their role in the disease process. In addition, the level of expression of genes (point 3) is also important in understanding disease processes at the functional level. This review outlines the techniques that are currently available for approximating phase and discusses the clinical relevance of establishing genetic phase in areas of clinical medicine outlined in points 1-3.

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Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy

Barbo,

Koritnik,

Leonardis

et al. 2024

Cell Mol Neurobiol

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The spinal muscular atrophy (SMA) phenotype strongly correlates with the SMN2 gene copy number. However, the severity and progression of the disease vary widely even among affected individuals with identical copy numbers. This study aimed to investigate the impact of genetic variability in oxidative stress, inflammatory, and neurodevelopmental pathways on SMA susceptibility and clinical progression. Genotyping for 31 genetic variants across 20 genes was conducted in 54 SMA patients and 163 healthy controls. Our results revealed associations between specific polymorphisms and SMA susceptibility, disease type, age at symptom onset, and motor and respiratory function. Notably, the TNF rs1800629 and BDNF rs6265 polymorphisms demonstrated a protective effect against SMA susceptibility, whereas the IL6 rs1800795 was associated with an increased risk. The polymorphisms CARD8 rs2043211 and BDNF rs6265 were associated with SMA type, while SOD2 rs4880, CAT rs1001179, and MIR146A rs2910164 were associated with age at onset of symptoms after adjustment for clinical parameters. In addition, GPX1 rs1050450 and HMOX1 rs2071747 were associated with motor function scores and lung function scores, while MIR146A rs2910164, NOTCH rs367398 SNPs, and GSTM1 deletion were associated with motor and upper limb function scores, and BDNF rs6265 was associated with lung function scores after adjustment. These findings emphasize the potential of genetic variability in oxidative stress, inflammatory processes, and neurodevelopmental pathways to elucidate the complex course of SMA. Further exploration of these pathways offers a promising avenue for developing personalized therapeutic strategies for SMA patients.

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Contribution of Hsa-Mir-146A and Hsa-Mir-223 Gene Variations in Patients with Multiple Sclerosis Reveals Association of Rs2910164 and Rs1044165 with Risk of Multiple Sclerosis Susceptibility

Cited by 4 publications

References 42 publications

Multiple Sclerosis: Roles of miRNA, lcnRNA, and circRNA and Their Implications in Cellular Pathways

Multiple Sclerosis: Roles of miRNA, lcnRNA, and circRNA and Their Implications in Cellular Pathways

The importance of establishing genetic phase in clinical medicine

Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy

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