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KMID : 0811820120160020073
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Journal of Korean Society of Pediatric Nephrology
2012 Volume.16 No. 2 p.73 ~ p.79
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Mutational Analysis of Mitochondria DNA in Children with IgA Nephropathy
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Eom Tae-Min
Jang Chang-Han
Kim Hyoung-Kyu
Kim Na-Ri
Chung Yun-Seo
Han Jin
Chung Woo-Yeong
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Abstract
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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±2.2 year and the mean age at latest evaluation was 17.9±3.2 year. The mean follow-up period were 7.8±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±0.6 g/dL vs. 4.7±0.2 g/dL, P=0.0241) and the mean total cholesterol level was significantly higher than those of group 1 (222.7±35.7 mg/dL vs. 148.3±29.1 mg/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±742.5 mg vs. 122.5±48.1 mg, 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±1.6 vs. 0.2±0.2, P=0.0961). Deletion of mtDNA nt 8272-8281 were observed in two patients, one patient in each groups, respectively. This is non-coding 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.
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KEYWORD
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IgA nephropathy, Proteinuria, Mitochondria DNA, Deletions, Children
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