Targeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti’s crystalline dystrophy

• Published in: Graefe's archive for clinical and experimental ophthalmology 2024-12, Vol.262 (12), p.3773-3786
• Main Authors: Li, Qian, Wang, Cong, Zhang, Shengjuan, Fu, Zhongjie, Jiao, Xiaodong, Jin, Zibing, Hejtmancik, J. Fielding, Miao, Huan, Qi, Simeng, Peng, Xiaoyan
• Format: Article
• Language: English
• Subjects: Adult; Arachidonic acid; Atrophy; Biomarkers; Biomarkers - blood; Biomarkers - metabolism; Case-Control Studies; Cholesterol; Corneal Dystrophies, Hereditary - blood; Corneal Dystrophies, Hereditary - diagnosis; Corneal Dystrophies, Hereditary - genetics; Corneal Dystrophies, Hereditary - metabolism; Cytochrome P450 Family 4 - genetics; Cytochrome P450 Family 4 - metabolism; DNA - genetics; Docosahexaenoic acid; Dystrophy; Eicosapentaenoic acid; Female; Genotypes; Hereditary diseases; Humans; Lipid metabolism; Lipid Metabolism - physiology; Lipidomics - methods; Lipids; Lipoxygenase; Male; Medicine; Medicine & Public Health; Metabolism; Metabolites; Middle Aged; Mutation; Ophthalmology; Oxylipins - blood; Pathogenesis; Plasma; Plasma levels; Polyunsaturated fatty acids; Prostaglandin E2; Prostaglandin endoperoxide synthase; Retinal Diseases - blood; Retinal Diseases - diagnosis; Retinal Diseases - genetics; Retinal Diseases - metabolism; Retinal Disorders; Therapeutic targets
• ISSN: 0721-832X; 1435-702X; 1435-702X
• DOI: 10.1007/s00417-024-06554-2

Purpose Abnormalities in lipid metabolism have been proposed in Bietti’s crystalline dystrophy (BCD). We aim to characterize the lipid profiles in a case-control study. Methods All participants were genetically confirmed by CYP4V2 gene sequencing and underwent chorioretinopathy evaluation by calculating the percentages of AF atrophy (PAFA). Fasting blood samples of BCD patients and controls were collected, and plasma was analyzed for routine lipid profiles. Targeted lipidomic evaluation includes long chain polyunsaturated fatty acids (LCPUFA) and associated eicosanoid metabolites. Results Routine lipids profiles showed elevated plasma levels of triglyceride ( P  = 0.043) and low-density lipoprotein cholesterol ( P  = 0.024) in BCD patients. Lipidomic analysis showed significantly decreased levels of ω-3 LCPUFA including docosahexaenoic acid (DHA, 22:6, P  = 0.00068) and eicosapentaenoic acid (EPA, 20:5, P  = 0.0016), as well as ω-6 LCPUFA arachidonic acid (ARA, 20:4, P