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Journal of the Korean Society of Pediatric Nephrology 2012;16(2): 73-79. doi: https://doi.org/10.3339/jkspn.2012.16.2.73
소아 IgA 신병증 환자에서 미토콘드리아 DNA 돌연변이 분석
엄태민, 장창한, 김형규, 김나리, 정윤서, 한진, 정우영
1인제대학교 의과대학 부산백병원 소아청소년과학교실
2인제대학교 의과대학 부산백병원 심혈관 대사질환 센터
3인제대학교 의과대학 부산백병원 심혈관 대사질환 센터
4인제대학교 의과대학 부산백병원 심혈관 대사질환 센터
5레고켐 바이오사이언스
6인제대학교 의과대학 부산백병원 심혈관 대사질환 센터
7인제대학교 의과대학 부산백병원 소아청소년과학교실
Mutational Analysis of Mitochondria DNA in Children with IgA Nephropathy
Tae Min Eom, Chang-Han Jang, Hyoung Kyu Kim, Nari Kim, Yun Seo Chung, Jin Han, Woo Yeong Chung
1Department of Pediatrics, Busan Paik Hospital, Inje University
2Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University
3Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University
4Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University
5Legochem Bioscience
6Cardiovascular and Metabolic Disease Center, Busan Paik Hospital, Inje University
7Department of Pediatrics, Busan Paik Hospital, Inje University
Received: September 3, 2012;  Revised: September 17, 2012.  Accepted: September 19, 2012.
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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.
Key words: IgA nephropathy | Proteinuria | Mitochondria DNA | Deletions | Children
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Clinical Analysis of Ectopic Kidney in Children  1999 October;3(2)
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