What is it about?

ADCK4 mutations generally manifest as steroid-resistant nephrotic syndrome, and cause coenzyme Q10 (CoQ10) deficiency. However, ADCK4’s function remains obscure. Using mouse and cell models, we demonstrated that podocyte-specific Adck4 deletion in mice significantly reduced survival and caused severe FSGS, effects that were prevented by treatment with 2,4-dihydroxybenzoic acid (2,4-diHB), a CoQ10 precursor analogue. ADCK4-knockout podocytes exhibited a significantly reduced CoQ10 level and defects in mitochondrial function that were rescued by 2,4-diHB treatment, thus these phenotypes were attributed to decreased CoQ10 levels. We also found that ADCK4 interacted with mitochondrial proteins, including COQ5, and that ADCK4 knockout decreasediCOQ complex levels.

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Why is it important?

Our results reveal that ADCK4 is required for CoQ10 biosynthesis and mitochondrial function in podocytes, and suggests a treatment strategy for nephrotic syndrome caused by ADCK4 mutations


Early detection of individuals with ADCK4 mutations is important because they can benefit from supplementation of food supplement, 2,4-diHB.

Heon Yung Gee
Yonsei University

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This page is a summary of: ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment, Journal of the American Society of Nephrology, May 2020, American Society of Nephrology,
DOI: 10.1681/asn.2019070756.
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