Targeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti's crystalline dystrophy.
Qian LiCong WangShengjuan ZhangZhongjie FuXiaodong JiaoZibing JinJ Fielding HejtmancikHuan MiaoSimeng QiXiao-Yan PengPublished in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
What is known BCD is a vision-threatening hereditary disease the causative gene of which is CYP4V2. Abnormalities in lipid metabolism have been proposed and demonstrated previously in BCD studies. The detailed pathogenesis remains unclear and controversial. What is new We observed prominent lipidomic alterations in the circulation when compared with age, gender, and bodymass index (BMI)-matched healthy controls. BCD patients demonstrated significant decreases in plasma levels of ω-3 and ω-6 LCPUFA (DHA, EPA, and ARA). Remarkable changes were observed in the downstream metabolites of the LCPUFA via the COX and LOX pathways. Genotypes of CYP4V2, specifically the biallelic null mutations, were observed to correlate with more remarkably reduced levels of oxylipins, involving major LOX pathway metabolites.
Keyphrases
- end stage renal disease
- ms ms
- chronic kidney disease
- ejection fraction
- newly diagnosed
- body mass index
- peritoneal dialysis
- mental health
- prognostic factors
- early onset
- intellectual disability
- copy number
- climate change
- room temperature
- cancer therapy
- weight gain
- autism spectrum disorder
- human health
- low density lipoprotein