ArticlePediatric nephrology (Berlin, Germany)2025
Single-cell transcriptomics in a child with coenzyme Q10 nephropathy: potential of single-cell RNA sequencing in pediatric kidney disease.
Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Applications of artificial intelligence in early childhood health management: a systematic review from fetal to pediatric periods.Frontiers in pediatrics · 2025Pooled it
- Ubiquitination-driven fibroblast dysfunction: a multi-omics blueprint for precision diagnosis and therapy in diabetic foot ulcer.Scientific reports · 2026Article
- Integrating bulk and single-cell RNA sequencing identifies and validates lactylation-related signatures in diabetic foot ulcers.Scientific reports · 2026Article
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- Mapping cellular interactions and communication landscapes in cervical cancer via single-cell transcriptomics.Discover oncology · 2025Article
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Authors and funding
7 authors.
Funding
Abstract
backgroundCoenzyme Q10 (CoQ10) nephropathy is a well-known cause of hereditary steroid-resistant nephrotic syndrome, primarily impacting podocytes. This study aimed to elucidate variations in individual cell-level gene expression in CoQ10 nephropathy using single-cell transcriptomics.
methodsWe conducted single-cell sequencing of a kidney biopsy specimen from a 5-year-old boy diagnosed with a CoQ10 nephropathy caused by a compound heterozygous COQ2 mutation complicated with immune complex-mediated glomerulonephritis. The analysis focused on the proportion of cell types, differentially expressed genes in each cell type, and changes in gene expression related to mitochondrial function and oxidative phosphorylation (OXPHOS).
resultsOur findings revealed a uniform downregulation of mitochondrial gene expression across various cell types in the context of these mutations. Notably, there was a specific decrease in mitochondrial gene expression across all cell types. The study also highlighted an altered immune cell population proportion attributed to the COQ2 gene mutation. Pathway analysis indicated a downregulation in OXPHOS and an upregulation of various synthesis pathways, particularly in podocytes.
conclusionsThis study improves our understanding of CoQ10 nephropathy's pathogenesis and highlights the potential applications of single-cell sequencing in pediatric hereditary kidney diseases.
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