1. Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations
- Author
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Hironori Niizeki, Takehiko Yokomizo, Feras M. Ghazawi, Toshiaki Okuno, Mai Ohba, Yuichiro Endo, Kenji Kabashima, Tomohiro Oiwa, Ryuji Uozumi, Mami Ishibashi, Kazue Yoshida, and Takashi Nomura
- Subjects
medicine.medical_specialty ,Osteoarthropathy, Primary Hypertrophic ,Prostaglandin ,Organic Anion Transporters ,Dermatology ,Dinoprostone ,030207 dermatology & venereal diseases ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Internal medicine ,Medicine ,Humans ,SLCO2A1 ,biology ,business.industry ,General Medicine ,biology.organism_classification ,Eicosapentaenoic acid ,Endocrinology ,chemistry ,Pachydermia ,Eicosanoid ,Docosahexaenoic acid ,030220 oncology & carcinogenesis ,Mutation ,biology.protein ,Eicosanoids ,lipids (amino acids, peptides, and proteins) ,Arachidonic acid ,business ,Homeostasis - Abstract
Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutated HPGD or SLCO2A1. Plasma prostaglandin (PG)E2 levels are increased in these patients. However, other eicosanoids have not been quantitated. We aimed to quantitate plasma eicosanoid levels in four patients carrying SLCO2A1 mutations by high-performance liquid chromatography-tandem mass spectrometry. PGE2 level was elevated in all patients; PGD2 and 11β-PGF2 α levels were also increased in some patients, whereas eicosapentaenoic acid, docosahexaenoic acid, and arachidonic acid levels were decreased in all patients. Our data indicate a dysfunctional eicosanoid homeostasis and varied levels of PG in patients with a complete form of PDP carrying SLCO2A1 mutations. PGE2 levels seem to mostly affect the symptoms, with other eicosanoids possibly having a minor effect.
- Published
- 2021