线粒体遗传学在复杂疾病中的作用

Namrata Londhe, Jaya Vyas
{"title":"线粒体遗传学在复杂疾病中的作用","authors":"Namrata Londhe, Jaya Vyas","doi":"10.4103/2349-3666.240604","DOIUrl":null,"url":null,"abstract":"The challenge in managing patients with mitochondrial diseases is in its complex nature as exemplified in the inheritance pattern and clinical presentation of mitochondrial diseases. Besides involvement of the nuclear genes, mitochondrial genes independently or together add to the complexity. Transmission of mitochondrial genome mutations by maternal inheritance and presence of heteroplasmy, high mitochondrial mutation rates and absence of introns poses problems in diagnosis and protocols for identification, treatment, prevention and management of the patients. With the use of advanced techniques including next generation sequencing to simultaneously screen multiple genes for alterations, identification of targets for therapy and better patient management is envisaged. The current review attempts to understand the role of mitochondrial genome in complex diseases and the utility of technological advances in diagnosis of mitochondrial diseases.","PeriodicalId":34293,"journal":{"name":"Biomedical Research Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Role of mitochondrial genetics in complex diseases\",\"authors\":\"Namrata Londhe, Jaya Vyas\",\"doi\":\"10.4103/2349-3666.240604\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The challenge in managing patients with mitochondrial diseases is in its complex nature as exemplified in the inheritance pattern and clinical presentation of mitochondrial diseases. Besides involvement of the nuclear genes, mitochondrial genes independently or together add to the complexity. Transmission of mitochondrial genome mutations by maternal inheritance and presence of heteroplasmy, high mitochondrial mutation rates and absence of introns poses problems in diagnosis and protocols for identification, treatment, prevention and management of the patients. With the use of advanced techniques including next generation sequencing to simultaneously screen multiple genes for alterations, identification of targets for therapy and better patient management is envisaged. The current review attempts to understand the role of mitochondrial genome in complex diseases and the utility of technological advances in diagnosis of mitochondrial diseases.\",\"PeriodicalId\":34293,\"journal\":{\"name\":\"Biomedical Research Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biomedical Research Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/2349-3666.240604\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biomedical Research Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/2349-3666.240604","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

管理线粒体疾病患者的挑战在于其复杂性,例如线粒体疾病的遗传模式和临床表现。除了核基因的参与,线粒体基因单独或共同增加了复杂性。线粒体基因组突变的母系遗传和异质性的存在、线粒体高突变率和内含子的缺失给患者的诊断和识别、治疗、预防和管理方案带来了问题。随着包括下一代测序在内的先进技术的使用,同时筛选多个基因的改变,确定治疗目标和更好的患者管理是可以设想的。本文旨在了解线粒体基因组在复杂疾病中的作用以及线粒体疾病诊断中技术进步的应用。
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
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Role of mitochondrial genetics in complex diseases
The challenge in managing patients with mitochondrial diseases is in its complex nature as exemplified in the inheritance pattern and clinical presentation of mitochondrial diseases. Besides involvement of the nuclear genes, mitochondrial genes independently or together add to the complexity. Transmission of mitochondrial genome mutations by maternal inheritance and presence of heteroplasmy, high mitochondrial mutation rates and absence of introns poses problems in diagnosis and protocols for identification, treatment, prevention and management of the patients. With the use of advanced techniques including next generation sequencing to simultaneously screen multiple genes for alterations, identification of targets for therapy and better patient management is envisaged. The current review attempts to understand the role of mitochondrial genome in complex diseases and the utility of technological advances in diagnosis of mitochondrial diseases.
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
自引率
0.00%
发文量
0
审稿时长
16 weeks
期刊最新文献
Clinical governance in radiologic practice: Evaluating the appropriateness of radiologic investigation considering patient clinical information using the radiology request form Is three-parent IVF the answer to preventing mitochondrial defects? Effect of different thermal change tests of micro tensile strength behavior bio-composite materials; In vitro study The outcomes of fetal cell microchimerism in the mother A case of COVID-19 triggered Rhino-Orbital Pulmonary Mucormycosis in Central India
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1