ADCK4 "reenergizes" nephrotic syndrome.
Level V
Where this comes from
- Record sourced from PubMed, PMID 24270414.
- Also identified by DOI 10.1172/JCI73168 and PMC identifier 3859427.
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Abstract
Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower coenzyme Q10 levels, and coenzyme Q10 supplementation ameliorated renal disease in a patient with this particular mutation, suggesting a potential therapy for patients with steroid-resistant nephrotic syndrome with ADCK4 mutations.
Medical subject headings
- Nephrotic Syndrome
- Protein Kinases
- Ubiquinone