Journal of clinical epigenetics最新文献

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Epigenetic Signature of Impaired Fasting Glucose in the Old Order Amish. 旧秩序阿米什人空腹血糖受损的表观遗传特征。

Journal of clinical epigenetics Pub Date : 2017-01-01 Epub Date: 2017-06-16 DOI: 10.21767/2472-1158.100052

May E Montasser, Yu-Ching Cheng, Keith Tanner, Alan R Shuldiner, Jeffrey R O'Connell

{"title":"Epigenetic Signature of Impaired Fasting Glucose in the Old Order Amish.","authors":"May E Montasser, Yu-Ching Cheng, Keith Tanner, Alan R Shuldiner, Jeffrey R O'Connell","doi":"10.21767/2472-1158.100052","DOIUrl":"https://doi.org/10.21767/2472-1158.100052","url":null,"abstract":"Introduction: Type 2 Diabetes (T2D) is a common chronic disease with substantial disease burden and economic impact. Lifestyle changes can significantly alter the course of the disease, if detected at an early stage. DNA methylation signature may serve as a biomarker for early detection of increased T2D risk.Design: DNA methylation profiling was performed using the Illumina Infinium Human Methylation 450K Bead chip array in 24 normoglycemic Old Order Amish (OOA) individuals who later developed Impaired Fasting Glucose (IFG) (cases), and 24 OOA individuals who remained normoglycemic after an average follow up of 10 years (controls). Cases and controls were matched on age, sex, BMI, baseline fasting glucose, and glucose level after 2 h from 75 g Oral Glucose Tolerance Test (OGTT).Results: Association analysis found no significant difference in either global methylation or individual probe methylation between cases and controls, however, the top 34 suggestive significant sites were located in genes with interesting biological links to T2D and glycemic traits. These genes include BTC that plays a role in pancreatic cell proliferation and insulin secretion, ITGA1 a known bone mineral density gene that was recently found to be associated also with T2D and glycemic traits, and may explain the link between T2D and BMD, and RPTOR and TSC2 both of which are part of insulin signaling pathway.Conclusions: These results may shed light on the initiation and development of hyperglycemia and T2D and help to identify high risk individuals for early intervention; however, further studies are required for validation.","PeriodicalId":91532,"journal":{"name":"Journal of clinical epigenetics","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2472-1158.100052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35773737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The emerging role of extracellular vesicle-derived miRNAs: implication in cancer progression and stem cell related diseases. 细胞外囊泡来源的mirna的新作用:在癌症进展和干细胞相关疾病中的意义

Journal of clinical epigenetics Pub Date : 2016-01-01 Epub Date: 2016-01-31

Qiwei Yang, Michael P Diamond, Ayman Al-Hendy

{"title":"The emerging role of extracellular vesicle-derived miRNAs: implication in cancer progression and stem cell related diseases.","authors":"Qiwei Yang, Michael P Diamond, Ayman Al-Hendy","doi":"","DOIUrl":"","url":null,"abstract":"Cells release into the extracellular environment, diverse types of membrane vesicles of endosomal and plasma membrane origin called exosomes and microvesicles. A number of studies indicate that these extracellular vehicles (EVs) mediate the interaction between cancer cells and their microenvironment; and thereby, play a critical role in the development of cancers. EVs contain cargo which consist of proteins, lipids, mRNAs, and miRNAs that can be delivered to different types of cells in nascent as well as distal locations. Discovery of this latter cargo has drawn an increasing amount of attention, due to their altering effects on the transcriptome, proteins, and subsequent cellular characteristics in recipient cells. Cancer cell derived exosomes (CCEs) have been identified in body fluids of cancer patients including urine, plasma and saliva. Because CCE content largely depends on tumor type and stage, they invariably lend great potential in serving as prognostic and diagnostic markers. Notably, accumulating evidence demonstrates that EV-derived miRNAs have key roles in regulating various aspects of cellular homeostasis, including proliferation, survival, migration, metastasis, and the immune system etc. More recently, diagnostic and therapeutic exploitation of stem cells derived EVs are under investigation. This review aims to summarize recent advances in EV-derived miRNAs in a variety of tumor types, and suggests that these cancer-derived exosomal miRNAs play a critical role in regulating cellular functions in surrounding and distant locations. It also discusses the role of adverse environmental exposure in altering stem cell exosomal miRNA profiling, which we believe leads to changes in the extracellular environment as well as a diverse range of biological processes.","PeriodicalId":91532,"journal":{"name":"Journal of clinical epigenetics","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834835/pdf/nihms-764038.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34478682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome. Prader-Willi综合征的整体甲基化和靶向印迹基因检测。

Journal of clinical epigenetics Pub Date : 2016-01-01 DOI: 10.21767/2472-1158.100026

A. Manzardo, M. Butler

{"title":"Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome.","authors":"A. Manzardo, M. Butler","doi":"10.21767/2472-1158.100026","DOIUrl":"https://doi.org/10.21767/2472-1158.100026","url":null,"abstract":"CONTEXT Methylation changes observed in Prader-Willi syndrome (PWS) may impact global methylation as well as regional methylation status of imprinted genes on chromosome 15 (in cis) or other imprinted obesity-related genes on other chromosomes (in trans) leading to differential effects on gene expression impacting obesity phenotype unique to (PWS). OBJECTIVE Characterize the global methylation profiles and methylation status for select imprinted genes associated with obesity phenotype in a well-characterized imprinted, obesity-related syndrome (PWS) relative to a cohort of obese and non-obese individuals. DESIGN Global methylation was assayed using two methodologies: 1) enriched LINE-1 repeat sequences by EpigenDx and 2) ELISA-based immunoassay method sensitive to genomic 5-methylcytosine by Epigentek. Target gene methylation patterns at selected candidate obesity gene loci were determined using methylation-specific PCR. SETTING Study participants were recruited as part of an ongoing research program on obesity-related genomics and Prader-Willi syndrome. PARTICIPANTS Individuals with non-syndromic obesity (N=26), leanness (N=26) and PWS (N=39). RESULTS A detailed characterization of the imprinting status of select target genes within the critical PWS 15q11-q13 genomic region showed enhanced cis but not trans methylation of imprinted genes. No significant differences in global methylation were found between non-syndromic obese, PWS or non-obese controls. INTERVENTION None. MAIN OUTCOME MEASURES Percentage methylation and the methylation index. CONCLUSION The methylation abnormality in PWS due to errors of genomic imprinting effects both upstream and downstream effectors in the 15q11-q13 region showing enhanced cis but not trans methylation of imprinted genes. Obesity in our subject cohorts did not appear to impact global methylation levels using the described methodology.","PeriodicalId":91532,"journal":{"name":"Journal of clinical epigenetics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90244744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5