线粒体 D 环甲基化水平与肌萎缩性脊髓侧索硬化症的病程成反比。

IF 3 4区医学 Q2 GENETICS & HEREDITY

Epigenomics Pub Date : 2024-02-01 Epub Date: 2024-02-05 DOI:10.2217/epi-2023-0265

Andrea Stoccoro, Adam R Smith, Lorena Mosca, Alessandro Marocchi, Francesca Gerardi, Christian Lunetta, Katie Lunnon, Lucia Migliore, Fabio Coppedè

{"title":"线粒体 D 环甲基化水平与肌萎缩性脊髓侧索硬化症的病程成反比。","authors":"Andrea Stoccoro, Adam R Smith, Lorena Mosca, Alessandro Marocchi, Francesca Gerardi, Christian Lunetta, Katie Lunnon, Lucia Migliore, Fabio Coppedè","doi":"10.2217/epi-2023-0265","DOIUrl":null,"url":null,"abstract":"Aim: To correlate mitochondrial D-loop region methylation levels and mtDNA copy number with disease duration in familial amyotrophic lateral sclerosis (ALS) patients. Patients & methods: The study population included 12 ALS patients with a mutation in SOD1 and 13 ALS patients with the C9orf72 hexanucleotide repeat expansion. Methylation levels of the D-loop region and mtDNA copy number were quantified using pyrosequencing and quantitative PCR, respectively. Results: We observed that D-loop methylation levels inversely correlated while mtDNA copy number positively correlated with disease duration. Conclusion: Considering the central role played by mitochondria in ALS, this preliminary study provides new knowledge for future studies aimed at identifying biomarkers of disease progression and new targets for therapeutic interventions.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"203-214"},"PeriodicalIF":3.0000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mitochondrial D-loop methylation levels inversely correlate with disease duration in amyotrophic lateral sclerosis.\",\"authors\":\"Andrea Stoccoro, Adam R Smith, Lorena Mosca, Alessandro Marocchi, Francesca Gerardi, Christian Lunetta, Katie Lunnon, Lucia Migliore, Fabio Coppedè\",\"doi\":\"10.2217/epi-2023-0265\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Aim: To correlate mitochondrial D-loop region methylation levels and mtDNA copy number with disease duration in familial amyotrophic lateral sclerosis (ALS) patients. Patients & methods: The study population included 12 ALS patients with a mutation in SOD1 and 13 ALS patients with the C9orf72 hexanucleotide repeat expansion. Methylation levels of the D-loop region and mtDNA copy number were quantified using pyrosequencing and quantitative PCR, respectively. Results: We observed that D-loop methylation levels inversely correlated while mtDNA copy number positively correlated with disease duration. Conclusion: Considering the central role played by mitochondria in ALS, this preliminary study provides new knowledge for future studies aimed at identifying biomarkers of disease progression and new targets for therapeutic interventions.\",\"PeriodicalId\":11959,\"journal\":{\"name\":\"Epigenomics\",\"volume\":\" \",\"pages\":\"203-214\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epigenomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/epi-2023-0265\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epigenomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/epi-2023-0265","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/5 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

目的：研究家族性肌萎缩侧索硬化症（ALS）患者线粒体D环区甲基化水平和mtDNA拷贝数与病程的相关性。患者和方法研究对象包括 12 名 SOD1 基因突变的 ALS 患者和 13 名 C9orf72 六核苷酸重复扩增的 ALS 患者。分别使用热测序和定量 PCR 对 D 环区的甲基化水平和 mtDNA 拷贝数进行了量化。结果我们观察到，D-环甲基化水平与病程成反比，而mtDNA拷贝数与病程成正比。结论考虑到线粒体在 ALS 中的核心作用，这项初步研究为今后旨在确定疾病进展生物标志物和治疗干预新靶点的研究提供了新的知识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Mitochondrial D-loop methylation levels inversely correlate with disease duration in amyotrophic lateral sclerosis.

Aim: To correlate mitochondrial D-loop region methylation levels and mtDNA copy number with disease duration in familial amyotrophic lateral sclerosis (ALS) patients. Patients & methods: The study population included 12 ALS patients with a mutation in SOD1 and 13 ALS patients with the C9orf72 hexanucleotide repeat expansion. Methylation levels of the D-loop region and mtDNA copy number were quantified using pyrosequencing and quantitative PCR, respectively. Results: We observed that D-loop methylation levels inversely correlated while mtDNA copy number positively correlated with disease duration. Conclusion: Considering the central role played by mitochondria in ALS, this preliminary study provides new knowledge for future studies aimed at identifying biomarkers of disease progression and new targets for therapeutic interventions.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Epigenomics GENETICS & HEREDITY-

CiteScore

5.80

自引率

2.60%

发文量

审稿时长

>12 weeks

期刊介绍： Epigenomics provides the forum to address the rapidly progressing research developments in this ever-expanding field; to report on the major challenges ahead and critical advances that are propelling the science forward. The journal delivers this information in concise, at-a-glance article formats – invaluable to a time constrained community. Substantial developments in our current knowledge and understanding of genomics and epigenetics are constantly being made, yet this field is still in its infancy. Epigenomics provides a critical overview of the latest and most significant advances as they unfold and explores their potential application in the clinical setting.