J Korean Soc Pediatr Nephrol.  2012 Oct;16(2):73-79.

Mutational Analysis of Mitochondria DNA in Children with IgA Nephropathy

• Eom TM
• Jang CH
• Kim HK
• Kim N
• Chung YS
• Han J
• Chung WY

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+/-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.

Keyword

IgA nephropathy; Proteinuria; Mitochondria DNA; Deletions; Children

MeSH Terms

Biopsy
Blood Platelets
Child
Cholesterol
Coat Protein Complex I
DNA
DNA, Mitochondrial
Follow-Up Studies
Glomerulonephritis, IGA
Humans
Immunoglobulin A
Kidney Failure, Chronic
Mitochondria
Nephrotic Syndrome
Polymerase Chain Reaction
Proteinuria
Reference Values
Serum Albumin
Cholesterol
Coat Protein Complex I
DNA
DNA, Mitochondrial
Immunoglobulin A
Serum Albumin