ArticleAmerican journal of physiology. Renal physiology2013
Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.
Article in American journal of physiology. Renal physiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 44 citations in OpenAlex.
- Mitochondrial abnormalities in nondiabetic and nonhypertensive glomerular diseases: a comprehensive review.Molecular and cellular biochemistry · 2026Review
- Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.Translational pediatrics · 2025Article
- Advances in focal segmental glomerulosclerosis research: genetic causes to non-coding RNAs.Molecular biology reports · 2025Review
- Collapsing Glomerulopathy.Advances in kidney disease and health · 2024Review
- Therapeutic Potential Targeting Podocyte Mitochondrial Dysfunction in Focal Segmental Glomerulosclerosis.Kidney diseases (Basel, Switzerland) · 2023Review
- Mechanisms of podocyte injury and implications for diabetic nephropathy.Clinical science (London, England : 1979) · 2022Article
- Mitochondrial Oxidative Stress and Cell Death in Podocytopathies.Biomolecules · 2022Review
- Glucocorticoids Induce Partial Remission of Focal Segmental Glomerulosclerosis but Not Interstitial Nephritis in COVID-19 Acute Kidney Injury in an APOL1 Low-Risk Genotype White Patient.The American journal of case reports · 2021Article
- Mitochondrial Disease and the Kidney With a Special Focus on CoQKidney international reports · 2020Review
- The complicated role of mitochondria in the podocyte.American journal of physiology. Renal physiology · 2020Article
- ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.Journal of the American Society of Nephrology : JASN · 2020Article
- The Vicious Cycle of Renal Lipotoxicity and Mitochondrial Dysfunction.Frontiers in physiology · 2020Review
- Genetic studies of focal segmental glomerulosclerosis: a waste of scientific time?Pediatric nephrology (Berlin, Germany) · 2020Review
- Genetic Ablation of Calcium-independent Phospholipase AScientific reports · 2019Article
- Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Pediatric nephrology (Berlin, Germany) · 2018Article
- Oxidative Stress, Apoptosis, and Mitochondrial Function in Diabetic Nephropathy.International journal of endocrinology · 2018Review
- Review
- Biochemistry of Mitochondrial Coenzyme Q Biosynthesis.Trends in biochemical sciences · 2017Review
- A Personalized Model ofJournal of the American Society of Nephrology : JASN · 2017Article
- Increasing the level of peroxisome proliferator-activated receptor γ coactivator-1α in podocytes results in collapsing glomerulopathy.JCI insight · 2017Article
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11 authors at 6 institutions in 1 country.
Funding
Abstract
Focal segmental glomerulosclerosis (FSGS) and collapsing glomerulopathy are common causes of nephrotic syndrome. Variants in >20 genes, including genes critical for mitochondrial function, have been associated with these podocyte diseases. One such gene, PDSS2, is required for synthesis of the decaprenyl tail of coenzyme Q10 (Q10) in humans. The mouse gene Pdss2 is mutated in the kd/kd mouse model of collapsing glomerulopathy. We examined the hypothesis that human PDSS2 polymorphisms are associated with podocyte diseases. We genotyped 377 patients with primary FSGS or collapsing glomerulopathy, together with 900 controls, for 9 single-nucleotide polymorphisms in the PDSS2 gene in a case-control study. Subjects included 247 African American (AA) and 130 European American (EA) patients and 641 AA and 259 EA controls. Among EAs, a pair of proxy SNPs was significantly associated with podocyte disease, and patients homozygous for one PDSS2 haplotype had a strongly increased risk for podocyte disease. By contrast, the distribution of PDSS2 genotypes and haplotypes was similar in AA patients and controls. Thus a PDSS2 haplotype, which has a frequency of 13% in the EA control population and a homozygote frequency of 1.2%, is associated with a significantly increased risk for FSGS and collapsing glomerulopathy in EAs. Lymphoblastoid cell lines from FSGS patients had significantly less Q10 than cell lines from controls; contrary to expectation, this finding was independent of PDSS2 haplotype. These results suggest that FSGS patients have Q10 deficiency and that this deficiency is manifested in patient-derived lymphoblastoid cell lines.
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