Prevalence of 4977bp Deletion in Mitochondrial DNA from Patients with Chronic Kidney Disease Receiving Conservative Treatment or Hemodialysis in Southern Brazil

Rossato, Liana Bertolin; Nunes, Ane Cláudia Fernandes; Saraiva-Pereira, Maria Luiza; Souza, Carolina Fischinger Moura de; Dummer, Claus Dieter; Milani, Vagner; Porsch, Daiana Benck; Mattos, Cristiane Bastos de; Barros, Elvino José Guardão

doi:10.1080/08860220701741650

Cited by 7 publications

(1 citation statement)

References 30 publications

(55 reference statements)

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“…Studies measuring mtDNA-CN appeared later and followed on from many studies showing links to MtDNA mutations, haplotypes, and mitochondrial dysfunction in some renal and many other disorders. A 4977 bp mtDNA deletion was reported in blood samples from CKD patients in 2008 [ 32 ]. A report measuring mtDNA-CN in renal tissue showed reduced mtDNA-CN and energy metabolism [ 33 ].…”

Section: The Kidneys and Mitochondrial Dysfunctionmentioning

confidence: 99%

Mitochondrial DNA – novel mechanisms of kidney damage and potential biomarker

Malik

2023

Current Opinion in Nephrology &Amp; Hypertension

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Purpose of review MtDNA copy number (CN), a putative noninvasive biomarker of mitochondrial dysfunction, is associated with renal disease. The purpose of this review is to describe studies which measured human blood mtDNA-CN in the context of chronic kidney disease (CKD), and to evaluate its potential as a clinical biomarker of kidney disease. Recent findings Following on from small scale cross-sectional studies implicating mtDNA-CN changes in diabetic kidney disease, recent large scale population studies provide compelling evidence of the association of mtDNA-CN and risk of renal disease in the general population and poor outcomes in CKD patients. Summary The kidney has high bioenergetic needs, renal cells are rich in mitochondrial content containing 100s to 1000s of mtDNA molecular per cell. MtDNA has emerged as both a potential mediator, and a putative biomarker of renal disease. Damage to mtDNA can result in bioenergetic deficit, and reduced MtDNA levels in the blood have been shown to correlate with CKD. Furthermore, leakage of mtDNA outside of mitochondria into the cytosol/periphery can directly cause inflammation and is implicated in acute kidney injury (AKI). Recent large-scale population studies show the association of mtDNA-CN and renal disease and provide a strong basis for the future evaluation of circulating DNA-CN in longitudinal studies to determine its utility as a clinical biomarker for monitoring renal function.

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Section: The Kidneys and Mitochondrial Dysfunctionmentioning

confidence: 99%

Mitochondrial DNA – novel mechanisms of kidney damage and potential biomarker

Malik

2023

Current Opinion in Nephrology &Amp; Hypertension

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Sensitivity and specificity prediction of the buccal micronucleus cytome assay in end-stage renal disease patients on dialysis: A case-control study

Gandhi

Tung

2017

Mutation Research/Genetic Toxicology and Environmental Mutagene

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Differential network enrichment analysis reveals novel lipid pathways in chronic kidney disease

Karnovsky

Afshinnia

et al. 2019

Bioinformatics

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Motivation Functional enrichment testing methods can reduce data comprising hundreds of altered biomolecules to smaller sets of altered biological ‘concepts’ that help generate testable hypotheses. This study leveraged differential network enrichment analysis methodology to identify and validate lipid subnetworks that potentially differentiate chronic kidney disease (CKD) by severity or progression. Results We built a partial correlation interaction network, identified highly connected network components, applied network-based gene-set analysis to identify differentially enriched subnetworks, and compared the subnetworks in patients with early-stage versus late-stage CKD. We identified two subnetworks ‘triacylglycerols’ and ‘cardiolipins-phosphatidylethanolamines (CL-PE)’ characterized by lower connectivity, and a higher abundance of longer polyunsaturated triacylglycerols in patients with severe CKD (stage ≥4) from the Clinical Phenotyping Resource and Biobank Core. These finding were replicated in an independent cohort, the Chronic Renal Insufficiency Cohort. Using an innovative method for elucidating biological alterations in lipid networks, we demonstrated alterations in triacylglycerols and cardiolipins-phosphatidylethanolamines that precede the clinical outcome of end-stage kidney disease by several years. Availability and implementation A complete list of NetGSA results in HTML format can be found at http://metscape.ncibi.org/netgsa/12345-022118/cric_cprobe/022118/results_cric_cprobe/main.html. The DNEA is freely available at https://github.com/wiggie/DNEA. Java wrapper leveraging the cytoscape.js framework is available at http://js.cytoscape.org. Supplementary information Supplementary data are available at Bioinformatics online.

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Prevalence of 4977bp Deletion in Mitochondrial DNA from Patients with Chronic Kidney Disease Receiving Conservative Treatment or Hemodialysis in Southern Brazil

Cited by 7 publications

References 30 publications

Mitochondrial DNA – novel mechanisms of kidney damage and potential biomarker

Mitochondrial DNA – novel mechanisms of kidney damage and potential biomarker

Sensitivity and specificity prediction of the buccal micronucleus cytome assay in end-stage renal disease patients on dialysis: A case-control study

Differential network enrichment analysis reveals novel lipid pathways in chronic kidney disease

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