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肾移植人群中线粒体基因组的下一代测序及其与IgA肾病的关联

Next-generation sequencing of the mitochondrial genome and association with IgA nephropathy in a renal transplant population.

作者信息

Douglas Adam P, Vance Dwaine R, Kenny Elaine M, Morris Derek W, Maxwell Alexander P, McKnight Amy Jayne

机构信息

Centre for Public Health, Queen's University Belfast, United Kingdom.

TrinSeq, Trinity Genome Sequencing Lab, Department of Psychiatry, Institute of Molecular Medicine, Trinity College, Dublin, Ireland.

出版信息

Sci Rep. 2014 Dec 9;4:7379. doi: 10.1038/srep07379.

DOI:10.1038/srep07379
PMID:25488329
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4260226/
Abstract

Kidneys are highly aerobic organs that are critically dependent on the normal functioning of mitochondria. Genetic variations disrupting mitochondrial function are associated with multifactorial disorders including kidney disease. This study sequenced the entire mitochondrial genome in a renal transplant cohort of 64 individuals, using next-generation sequencing, to evaluate the association of genetic variants with IgA nephropathy and end-stage renal disease (ESRD, n = 100).

摘要

肾脏是高度需氧的器官，严重依赖线粒体的正常功能。破坏线粒体功能的基因变异与包括肾脏疾病在内的多因素疾病有关。本研究使用下一代测序技术对64名个体的肾脏移植队列中的整个线粒体基因组进行测序，以评估基因变异与IgA肾病和终末期肾病（ESRD，n = 100）之间的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ee265a1afea0/srep07379-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ba62e71b45ba/srep07379-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ee265a1afea0/srep07379-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ba62e71b45ba/srep07379-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ee265a1afea0/srep07379-f2.jpg

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2
Association of sequence polymorphism in the mitochondrial D-loop with chronic kidney disease.线粒体D环序列多态性与慢性肾脏病的关联
Ren Fail. 2014 Jun;36(5):781-4. doi: 10.3109/0886022X.2014.890842. Epub 2014 Feb 27.
3
Single nucleotide polymorphisms in the D-loop region of mitochondrial DNA is associated with renal cell carcinoma outcome.
线粒体遗传变异与英国生物库参与者慢性肾脏病和急性肾损伤的风险。
Hum Genet. 2024 Feb;143(2):151-157. doi: 10.1007/s00439-023-02615-4. Epub 2024 Feb 13.
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Gene Editing Technologies Targeting TFAM and Its Relation to Mitochondrial Diseases.靶向 TFAM 的基因编辑技术及其与线粒体疾病的关系。
Adv Exp Med Biol. 2023;1429:173-189. doi: 10.1007/978-3-031-33325-5_10.
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Harnessing Genomic Analysis to Explore the Role of Telomeres in the Pathogenesis and Progression of Diabetic Kidney Disease.利用基因组分析探索端粒在糖尿病肾病发病机制和进展中的作用。
Genes (Basel). 2023 Feb 28;14(3):609. doi: 10.3390/genes14030609.
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Mitochondrial dysfunction in kidney injury, inflammation, and disease: Potential therapeutic approaches.肾脏损伤、炎症及疾病中的线粒体功能障碍：潜在治疗方法
Kidney Res Clin Pract. 2020 Sep 30;39(3):244-258. doi: 10.23876/j.krcp.20.082.
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"Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics.“线粒体工具箱”——探索线粒体基因组学的在线资源综述
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