ArticleThe Journal of clinical investigation2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Article in The Journal of clinical investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05942027 (Clinical Study Evaluating the Role of Coenzyme Q10 as Adjuvant Therapy to Angiotensin Converting Enzyme Inhibitor on Blood Pressure, Proteinuria and Bone Metabolism in Patients With Chronic Kidney Disease), which is not on this map. Cited by 224 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical Study Evaluating the Role of Coenzyme Q10 as Adjuvant Therapy to Angiotensin Converting Enzyme Inhibitor on Blood Pressure, Proteinuria and Bone Metabolism in Patients With Chronic Kidney Disease
Who cites it
224 citing papers in PubMed, 2 syntheses or guidelines pooled it, 394 citations in OpenAlex.
- COQ2-Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- New therapeutic hope for rare podocytopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.Clinical and experimental nephrology · 2026Observational
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Nature reviews. Nephrology · 2026Review
- Multi-variant genotyping identifies association of TRPC6 rs36111323 with diabetic kidney disease in a South Indian population.Molecular biology reports · 2026Article
- N-Acetylglucosamine Selectively Attenuates Neuroinflammation in a Mouse Model of Mitochondrial Dysfunction.Acta physiologica (Oxford, England) · 2026Article
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Immune mechanisms and immunomodulatory therapies in steroid-resistant nephrotic syndrome.Renal failure · 2025Review
- Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Familial cancer · 2025Review
- Morpholino Knockdown in Zebrafish: A Tool to Investigate the Functional Impact of Variants of Unknown Significance in Mitochondrial Diseases.Neuromolecular medicine · 2025Review
- Functional Testing of Human Disease Missense Variants inKidney international reports · 2025Article
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- Outcomes and prognostic factors in childhood-onset steroid-resistant nephrotic syndrome: a retrospective single-center study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- Success of Coenzyme Q10 in Treating Steroid-Resistant Nephrotic Syndrome in Jordan: A Case Series.Cureus · 2025Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
164 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
56 authors at 17 institutions in 8 countries.
Funding
Abstract
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping. Each mutation was linked to early-onset SRNS with sensorineural deafness. The deleterious effects of these human COQ6 mutations were validated by their lack of complementation in coq6-deficient yeast. Furthermore, knockdown of Coq6 in podocyte cell lines and coq6 in zebrafish embryos caused apoptosis that was partially reversed by coenzyme Q10 treatment. In rats, COQ6 was located within cell processes and the Golgi apparatus of renal glomerular podocytes and in stria vascularis cells of the inner ear, consistent with an oto-renal disease phenotype. These data suggest that coenzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated.
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Registered trials
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