Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.

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.

• Authors: Tomohiro Oiwa, Mami Ishibashi, Toshiaki Okuno, Mai Ohba, Yuichiro Endo, Ryuji Uozumi, Feras M Ghazawi, Kazue Yoshida, Hironori Niizeki, Takehiko Yokomizo, Takashi Nomura, Kenji Kabashima
• Journal: The Journal of dermatology (J Dermatol) Vol. 48 Issue 9 Pg. 1442-1446 (Sep 2021) ISSN: 1346-8138 [Electronic] England
• PMID: 34114674 (Publication Type: Journal Article)
• Copyright: © 2021 Japanese Dermatological Association.

Chemical References

• Eicosanoids
• Organic Anion Transporters
• SLCO2A1 protein, human
• Dinoprostone

Topics

• Dinoprostone
• Eicosanoids
• Humans
• Mutation
• Organic Anion Transporters (genetics)
• Osteoarthropathy, Primary Hypertrophic (diagnosis, genetics)