ArticleJournal of inherited metabolic disease2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 58 citations in OpenAlex.
- Sulfide dynamics at the gut-microbiota interface: diet, oxygen and redox interplay.Gut microbes · 2026Review
- Integrative Proteomic Analysis Reveals VMG Oncolytic Virus-Induced Molecular Reprogramming in Pancreatic Ductal Adenocarcinoma.Research square · 2026Article
- CoQExperimental & molecular medicine · 2026Review
- Hydrogen sulfide increases intracellular oxygen and inhibits the HIF response.The Journal of biological chemistry · 2026Article
- Hydrogen Sulfide InhibitsCells · 2026Article
- Role of Sulfide Quinone Oxidoreductase and Supersulfides in Hepatic Ischemia-Reperfusion Injury in Mice.Antioxidants (Basel, Switzerland) · 2026Article
- Hydrogen Sulfide Consumption and Cell Bioenergetics in Human (Patho)physiology.Handbook of experimental pharmacology · 2026Review
- Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.Handbook of experimental pharmacology · 2026Review
- Power and poison: The intersections of HThe Journal of biological chemistry · 2025Review
- Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.The Journal of clinical investigation · 2025Article
- Hydrogen sulfide/polysulfides signaling and neuronal diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Review
- Gut sulfide metabolism modulates behavior and brain bioenergetics.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Review
- HThe Journal of biological chemistry · 2025Article
- Comprehensive analysis of bioinformatics identification TST, SQOR and NRDC is mitochondria-related biomarkers of ischemic cerebral apoplexy.Scientific reports · 2025Article
- Essential role of sulfide oxidation in brain health and neurological disorders.Pharmacology & therapeutics · 2025Review
- SQOR as a metabolic rheostat of HFrontiers in cell and developmental biology · 2025Review
- A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.Human mutation · 2025Review
- Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.Molecular genetics and metabolism reports · 2024Review
- Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism.The Journal of clinical investigation · 2024Article
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Authors and funding
21 authors at 9 institutions in 3 countries.
Funding
Abstract
Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pathogenic variants in SQOR. Exome sequencing identified variants; SQOR enzyme activity was measured spectrophotometrically, protein levels evaluated by western blotting, and mitochondrial function was assayed. In family A, following a brief illness, a 4-year-old girl presented comatose with lactic acidosis and multiorgan failure. After stabilization, she remained comatose, hypotonic, had neurostorming episodes, elevated lactate, and Leigh-like lesions on brain imaging. She died shortly after. Her 8-year-old sister presented with a rapidly fatal episode of coma with lactic acidosis, and lesions in the basal ganglia and left cortex. Muscle and liver tissue had isolated decreased complex IV activity, but normal complex IV protein levels and complex formation. Both patients were homozygous for c.637G > A, which we identified as a founder mutation in the Lehrerleut Hutterite with a carrier frequency of 1 in 13. The resulting p.Glu213Lys change disrupts hydrogen bonding with neighboring residues, resulting in severely reduced SQOR protein and enzyme activity, whereas sulfide generating enzyme levels were unchanged. In family B, a boy had episodes of encephalopathy and basal ganglia lesions. He was homozygous for c.446delT and had severely reduced fibroblast SQOR enzyme activity and protein levels. SQOR dysfunction can result in hydrogen sulfide accumulation, which, consistent with its known toxicity, inhibits complex IV resulting in energy failure. In conclusion, SQOR deficiency represents a new, potentially treatable, cause of Leigh disease.
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