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Abstract : The most common glomerular disorder in children is nephrotic syndrome. Steroid-resistant nephrotic syndrome is one of the major causes of end-stage kidney disease in children and young adults. For approximately 30% of children were with steroid resistance results from a genetic cause. The COQ8B(ADCK4) gene is one of the several genes encoding enzymes required for the Coenzyme Q (ubiquinone; CoQ10) pathway and is the most common causative gene, present in podocytes of the glomerulus and is mostly concentrated in podocyte mitochondria. ADCK4 stabilizes the CoQ complex to maintain podocyte homeostasis, in ADCK4-mutant patients CoQ10 levels were reduced so have benefit for CoQ10 supplementation. The objective of present research analyzes the association between steroid response and the ADCK4 (COQ8B) gene polymorphism (C.532CT), as well as coenzyme Q10 serum levels. In total 80 patients with NS (40 SRNS and 40 SSNS) and 80 health control of Iraqi origin were genotype for ADCK4 (COQ8B) genotype: C.532C>T (p.Arg178Trp) (p.R178W) (rs398122978) using The Tetra-Amplification-Refractory Mutation System-Polymerase Chain Reaction (T-ARMS-PCR) method. Highly significant difference in COQ serum level between control and nephrotic groups (p˂0.001). The molecular result, both T and C allele equal frequency between control and SSNS. While in steroid resistance group, T allele is less frequent and C allele more frequent than control and steroid sensitive groups. Homogenous missense (TT) in a c.532C>T; p.R178W only in pediatric patient with steroid resistance, while homozygous (CC) more frequent in SRNS (27.5%) than control (7.5%) and SSNS (7.5%). This is the first research project of its kind in Iraqi origin to look at how the ADCK4 gene can affect susceptibility to NS to steroid treatment with association to COQ10 serum level. to use serum Q10 as diagnostic biomarker in patient with ADCK4 associated SRNS.

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