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http://dx.doi.org/10.3339/jkspn.2012.16.2.73

Mutational Analysis of Mitochondria DNA in Children with IgA Nephropathy  

Eom, Tae Min (Department of Pediatrics, Busan Paik Hospital, Inje University)
Jang, Chang-Han (Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University)
Kim, Hyoung Kyu (Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University)
Kim, Nari (Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University)
Chung, Yun Seo (Legochem Bioscience)
Han, Jin (Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University)
Chung, Woo Yeong (Department of Pediatrics, Busan Paik Hospital, Inje University)
Publication Information
Childhood Kidney Diseases / v.16, no.2, 2012 , pp. 73-79 More about this Journal
Abstract
Purpose: The association of mitochondrial DNA (mtDNA) mutations, deletions and copy number with progressive changes in patients with some glomerular disease and end-stage renal disease have been reported. In this study, we performed mtDNA mutation analysis in children with IgA nephropathy to investigate its role in progressive clinical course. Methods: Seven children with IgA nephropathy were involved in this study. MtDNA isolated from platelet was amplified by PCR and sequenced entirely. Results: The mean age at renal biopsy was $11.5{\pm}2.2$ year and the mean age at latest evaluation was $17.9{\pm}3.2$ year. The mean follow-up period were $7.8{\pm}3.1$ years. Patients was divided into 2 groups according to the amount of proteinuria at presenting manifestation. Group 2 patients were nephrotic syndrome. Renal function reveals within normal range in all patients. In group 2 patients, the mean serum albumin level was significantly lower than those of group 1 ($3.7{\pm}0.6g/dL$ vs. $4.7{\pm}0.2g/dL$, P=0.0241) and the mean total cholesterol level was significantly higher than those of group 1 ($222.7{\pm}35.7mg/dL$ vs. $148.3{\pm}29.1mg/dL$, P=0.0283). In Group 2 patients, total amount of protein of 24 hour collected urine also significantly higher than those of group 1 ($1,466.0{\pm}742.5mg$ vs. $122.5{\pm}48.1mg$, P=0.0135). Pr/Cr ratio in random urine sample was also higher in group 2 than those of group 1 but the statistical significance was not noted ($1.8{\pm}1.6$ vs. $0.2{\pm}0.2$, P=0.0961). Deletion of mtDNA nt 8272-8281 were observed in two patients, one patient in each groups, respectively. This is noncoding lesion. No patients demonstrated the mtDNA mutations. Conclusions: We have identified a deletion of mtDNA nt 8272-8281 in two children with IgA nephropathy. Further studies are needed to clarify the role of mitochondrial function in the progressive change of IgA nephropathy.
Keywords
IgA nephropathy; Proteinuria; Mitochondria DNA; Deletions; Children;
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