Mutations in ADCK4 can cause steroid-resistant nephrotic syndrome (SRNS) say researchers. Ashraf et al. identified ADCK4 mutations in 15 patients with SRNS and showed that these mutations led to reductions in coenzyme Q10 (CoQ10) levels and mitochondrial respiratory enzyme activity. They also report that ADCK4 interacts with members of the CoQ10 biosynthesis pathway in podocytes. As CoQ10 treatment resulted in partial remission of SRNS in a patient with a homozygous ADCK4 mutation, the researchers suggest that such therapy might be effective in patients with SRNS and mutations in genes that have a role in CoQ10 biosynthesis.
References
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J. Clin. Invest. 10.1172/JCI69000
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ADCK4 mutations and CoQ10 in SRNS. Nat Rev Nephrol 10, 64 (2014). https://doi.org/10.1038/nrneph.2013.265
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DOI: https://doi.org/10.1038/nrneph.2013.265