Ask about this productRelated genes to: ATXN7L1 Blocking Peptide
- Gene:
- ATXN7L1 NIH gene
- Name:
- ataxin 7 like 1
- Previous symbol:
- ATXN7L4
- Synonyms:
- KIAA1218, MGC33190
- Chromosome:
- 7q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-08-18
- Date modifiied:
- 2016-10-05
Related products to: ATXN7L1 Blocking Peptide
Related articles to: ATXN7L1 Blocking Peptide
- Sepsis-associated liver injury (SLI) is a common complication of sepsis, for which effective therapeutic strategies are lacking. DNA methylation and hydroxymethylation play crucial roles in the regulation of gene expression. This study investigated the effects of metformin on the DNA methylation landscape in a rat model of cecal ligation and puncture (CLP)-induced SLI. Reduced representation bisulfite sequencing (RRBS) and oxidative RRBS (ox-RRBS) were used to assess global DNA methylation and hydroxymethylation patterns in the liver tissues. The results showed that CLP-induced SLI was associated with global DNA hypomethylation and hyperhydroxymethylation, which were partially reversed by metformin treatment. The expression levels of DNA methyltransferases and ten-eleven translocation 2 (TET2) were elevated in the CLP group and were modulated by metformin. Functional enrichment analysis of differentially methylated and hydroxymethylated genes revealed their involvement in oxidative phosphorylation and metabolic pathways. Furthermore, integration of DNA methylation, hydroxymethylation, and transcriptome data identified two genes, A1cf and Atxn7l1, that exhibited increased methylation and decreased expression in CLP, which were reversed by metformin treatment. These findings provide novel insights into the epigenetic mechanisms underlying SLI and suggest that metformin exerts hepatoprotective effects by modulating DNA methylation and hydroxymethylation. - Source: PubMed
Publication date: 2025/05/07
Liu FengyuTong RanSong HengGong LinmeiDing XianfeiLiu HuanLi HongyiLiu LimingWang YuzeZhang RuipengSun Tongwen - Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal dominant neurodegenerative disorders caused by (CAG/CAA) expansions. The elongated stretches of adjacent glutamines alter the conformation of the native proteins inducing neurotoxicity, and subsequent motor and neurological symptoms. Although the etiology and neuropathology of most polyQ SCAs have been extensively studied, only a limited selection of therapies is available. Previous studies on SCA1 demonstrated that ATXN1L, a human duplicated gene of the disease-associated ATXN1, alleviated neuropathology in mice models. Other SCA-associated genes have paralogs (i.e., copies at different chromosomal locations derived from duplication of the parental gene), but their functional relevance and potential role in disease pathogenesis remain unexplored. Here, we review the protein homology, expression pattern, and molecular functions of paralogs in seven polyQ dominant ataxias-SCA1, SCA2, MJD/SCA3, SCA6, SCA7, SCA17, and DRPLA. Besides ATXN1L, we highlight ATXN2L, ATXN3L, CACNA1B, ATXN7L1, ATXN7L2, TBPL2, and RERE as promising functional candidates to play a role in the neuropathology of the respective SCA, along with the parental gene. Although most of these duplicates lack the (CAG/CAA) region, if functionally redundant, they may compensate for a partial loss-of-function or dysfunction of the wild-type genes in SCAs. We aim to draw attention to the hypothesis that paralogs of disease-associated genes may underlie the complex neuropathology of dominant ataxias and potentiate new therapeutic strategies. - Source: PubMed
Publication date: 2023/10/16
Felício Danieladu Mérac Tanguy RubatAmorim AntónioMartins Sandra - Pharmacological inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is an established therapeutic option to treat hypercholesterolemia, and plasma PCSK9 levels have been implicated in cardiovascular disease incidence. A number of genetic variants within the PCSK9 gene locus have been shown to modulate PCSK9 levels, but these only explain a very small percentage of the overall PCSK9 interindividual variation. Here we present data on the genetic association structure between PCSK9 levels and genom-wide genetic variation in a healthy sample from the general population. We performed a genome-wide association study of plasma PCSK9 levels in a sample of Brazilian individuals enrolled in the Estudo Longitudinal de Saude do Adulto cohort (=810). Enrolled individuals were free from cardiovascular disease, diabetes and were not under lipid-lowering medication. Genome-wide genotyping was conducted using the Axiom_PMRA.r3 array, and imputation was performed using the TOPMED multi-ancestry sample panel as reference. Total PCSK9 plasma concentrations were determined using the Quantikine SPC900 ELISA kit. We observed two genome-wide significant loci and seven loci that reached the pre-defined value of threshold of 1×10. Significant variants were near and , and . Genetic variation at the locus was able to explain approximately 4% of the overall interindividual variations in PCSK9 levels. Colocalization analysis using eQTL data suggested , , , and to be potential mediators of some of the observed associations. Our results suggest that PCSK9 levels may be modulated by genetic variation outside of the gene and this may have clinical implications. Understanding both environmental and genetic predictors of PCSK9 levels may help identify new targets for cardiovascular disease treatment and contribute to a better assessment of the benefits of long-term PCSK9 inhibition. - Source: PubMed
Publication date: 2021/09/29
Bensenor IsabelaPadilha KallyandraLima Isabella RamosSantos Raul DiasLambert GillesRamin-Mangata StéphaneBittencourt Marcio SGoulart Alessandra CSantos Itamar SMill Jose GKrieger Jose ELotufo Paulo APereira Alexandre C - By comparing and analyzing the differential sites of single nucleotide polymorphisms (SNP) between pregnant women with hypothyroidism and normal controls, the possible pathogenesis of hypothyroidism during pregnancy was explored. A total of 53 pregnant women with hypothyroidism during pregnancy from January 2018 to October 2018 were enrolled. A total of 50 pregnant women who underwent concurrent delivery and matched age with the case group were selected. Whole blood scans were performed on blood samples from two groups of subjects using the Illumina ASA chip to analyze the SNP with significant differences between the two groups. The human genome database hg19_dbsnp_version150 was employed to locate related genes. The association of related genes with thyroid dysfunction and pregnancy complications were analyzed. A total of 13 SNPs were found in the study: rs4668077 (2.87E-05) in CERS6, rs6717546 (5.92E-05) in UGT1A1, rs1965358(7.78E-05) in CASR, rs916801 (9.22E-05) near CXCL14, rs6886845 (8.67E-05)near MAT2B, rs76245053 in GRIK2 (2.07E-05), rs6977642 (2.10E-05)in HDAC9, rs6949597 (3.68E-05) near ATXN7L1, rs11186331 (2.08E-05) in HTR7, rs2415551 (4.53E-05) near FBXO33, rs75850124 (9.24E-05) and rs76519339 (9.24E-05)in MIR4527, rs1014971 (3.24E-05) near CBX6 were statistically significant in the hypothyroidism group compared with the control group. The related gene UGT1A1 is related to the metabolism of thyroxine in the liver. CASR, CXCL14 and CBX6 are related to reproductive ability. CXCL14, CASR, HBAC9 and CERS6 are related to metabolic syndrome, and GRIK2, HTR7 and FBOX33 are related to neuropsychiatric diseases. Abnormal serum thyroxine levels during pregnancy may be associated with abnormal metabolism of thyroxine caused by UGT1A1 mutation. Genes associated with reproduction, metabolism, and neuropsychiatric disorders suggest a pathogenic link between hypothyroidism and infertility, metabolic syndrome, and neuropsychiatric disorders. - Source: PubMed
Liang LMao YZhang J RZhang S CYang H X - - Source: PubMed
Zhu Y CWang W XXu C WZhang Q XDu K QChen GLv T FSong Y