The rs13388259 Intergenic Polymorphism in the Genomic Context of the<i>BCYRN1</i>Gene Is Associated with Parkinson’s Disease in the Hungarian Population

Márki, Sándor; Göblös, Anikó; Szlávicz, Eszter; Török, Nóra; Balicza, Péter; Bereznai, Benjámin; Takáts, Annamária; Engelhardt, J.; Klivényi, Péter; Vécsei, László; Molnár, Mária Judit; Nagy, Nikoletta; Széll, Márta

doi:10.1155/2018/9351598

Cited by 18 publications

(18 citation statements)

References 43 publications

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“…A common theme emerging from these studies is that lncRNAs control the expression of nearby protein-coding genes in cis and that deregulation of this relationship could lead to brain diseases. The majority of these lncRNAs, which are considered to be expressed in the nervous system, have only been identified in genome-wide expression screens; intriguingly, their involvement in Parkinson’s disease (PD) is only beginning to be explored (Saracchi et al, 2014; Soreq et al, 2014; Ni et al, 2017; Marki et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Long Non-coding RNAs Associated With Neurodegeneration-Linked Genes Are Reduced in Parkinson’s Disease Patients

Elkouris

Kouroupi

Vourvoukelis

et al. 2019

Front. Cell. Neurosci.

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Transcriptome analysis has identified a plethora of long non-coding RNAs (lncRNAs) expressed in the human brain and associated with neurological diseases. However, whether lncRNAs expression levels correlate with Parkinson’s disease (PD) pathogenesis remains unknown. Herein, we show that a number of lncRNA genes encompassing transcriptional units in close proximity to PD-linked protein-coding genes, including SNCA , LRRK2 , PINK1 , DJ-1 , UCH-L1 , MAPT and GBA1 , are expressed in human dopaminergic cells and post-mortem material, such as cortex, Substantia Nigra and cerebellum. Interestingly, these lncRNAs are upregulated during neuronal differentiation of SH-SY5Y cells and of dopaminergic neurons generated from human fibroblast-derived induced pluripotent stem cells. Importantly, six lncRNAs are found under-expressed in the nigra and three in the cerebellum of PD patients compared to controls. Simultaneously, SNCA mRNA levels are increased in the nigra, while LRRK2 and PINK1 mRNA levels are decreased both in the nigra and the cerebellum of PD subjects compared to controls, indicating a possible correlation between the expression profile of the respective lncRNAs with their adjacent coding genes. Interestingly, all dysregulated lncRNAs are also detected in human peripheral blood mononuclear cells and four of them in exosomes derived from human cerebrospinal fluid, providing initial evidence for their potential use as diagnostic tools for PD. Our data raise the intriguing possibility that these lncRNAs may be involved in disease pathogenesis by regulating their neighboring PD-associated genes and may thus represent novel targets for the diagnosis and/or treatment of PD or related diseases.

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Section: Introductionmentioning

confidence: 99%

Long Non-coding RNAs Associated With Neurodegeneration-Linked Genes Are Reduced in Parkinson’s Disease Patients

Elkouris

Kouroupi

Vourvoukelis

et al. 2019

Front. Cell. Neurosci.

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“…The brain cytoplasmic 200 long-noncoding RNA 1 is coded in the BCYRN1. The rs13388259 Intergenic polymorphism BCYRN1 gene was associated with PD [50]. A large-scale meta-analysis of genome-side association (GSA) studies identified SNP variants of several loci associated with PD.…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase Influenced the Age Onset of Parkinson’s Disease

Török¹,

Maszlag-Török²,

Molnár³

et al. 2021

Preprint

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Aims Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3- dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) has been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. Main methods SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. Key findings No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. Significance The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

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“…MKL-1 can also act as a transcription factor to promote cancer development by altering the expression of other genes in cancer cells. MKL-1 can bind directly to the core region of the CAPP1 promoter to regulate the activity of the CAPP1 promoter [41]. MKL-1 mediates TGF-β-induced RhoJ transcription to promote breast cancer cell migration and invasion [42].…”

Section: Discussionmentioning

confidence: 99%

MKL1/PINK1-AS/miR-34a-5p Regulates ALDOA to Affect Aerobic Glycolysis in Hepatocellular Carcinoma

Wang

Zhang

Dai

et al. 2021

Preprint

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BackgroundAldolase A, an important metabolic enzyme in the glycolytic pathway, plays an important role in regulating tumour metabolism. In this study, we investigated the expression pattern of ALDOA in hepatocellular carcinoma and its biological role in tumour progression.MethodsBioinformatics analysis, Western Blot and RT-qPCR were performed to detect the relative expression of ALDOA in hepatocellular carcinoma tissues and cell lines. A loss-of-function approach was used to investigate the biological function of ALDOA. The role of ALDOA on glycolysis and apoptosis was assessed by Western Blot, glucose and lactate assay kits, flow cytometry and a nude mouse xenograft model. RNA immunoprecipitation, luciferase reporter experiment, chromatin immunoprecipitation and Western Blot were performed to elucidate the underlying molecular ResultsElevated ALDOA expression correlated with the prognosis of hepatocellular carcinoma patients. exogenous downregulation of ALDOA expression significantly inhibited cellular glycolysis and promoted apoptosis. Mechanistic studies suggest that ALDOA is a direct target of miR-34a-5p, which can enhance apoptosis and inhibit glycolysis in hepatocellular carcinoma cells by targeting the 3'UTR of ALDOA. PINK1-AS competitively sponged miR-34a-5p to increase ALDOA expression by antagonizing miR-34a-5p-mediated ALDOA inhibition. MKL1 acted as a transcription factor to promote the expression of PINK1-AS and ALDOA, thus promoting the deterioration of hepatocellular carcinoma cells.ConclusionThis study shows that high expression of ALDOA contributes to the development and poor prognosis of hepatocellular carcinoma and will be a target and potential prognostic biomarker for the treatment of hepatocellular carcinoma.

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The rs13388259 Intergenic Polymorphism in the Genomic Context of theBCYRN1Gene Is Associated with Parkinson’s Disease in the Hungarian Population

Cited by 18 publications

References 43 publications

Long Non-coding RNAs Associated With Neurodegeneration-Linked Genes Are Reduced in Parkinson’s Disease Patients

Long Non-coding RNAs Associated With Neurodegeneration-Linked Genes Are Reduced in Parkinson’s Disease Patients

Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase Influenced the Age Onset of Parkinson’s Disease

MKL1/PINK1-AS/miR-34a-5p Regulates ALDOA to Affect Aerobic Glycolysis in Hepatocellular Carcinoma

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