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

The Journal of Dermatology
Tomohiro OiwaKenji Kabashima

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.

References

Nov 16, 2002·Prostaglandins & Other Lipid Mediators·Hsin-Hsiung TaiFengxiang Yan
Nov 15, 2005·Clinical Genetics·M CastoriB Dallapiccola
Dec 27, 2011·American Journal of Human Genetics·Zhenlin ZhangYujuan Liu
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Jun 12, 2018·Biochemical and Biophysical Research Communications·Mai OhbaTakehiko Yokomizo
Aug 7, 2018·Pharmacology & Therapeutics·R Stokes Peebles

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