A disease-associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer.

ABSTRACT:

Background

Cytochrome P450 4F3 (CYP4F3) is an ω-hydroxylase that oxidizes leukotriene B4 (LTB4), prostaglandins, and fatty acid epoxides. LTB4 is synthesized by leukocytes and acts as a chemoattractant for neutrophils, making it an essential component of the innate immune system. Recently, involvement of the LTB4 pathway was reported in various immunological disorders such as asthma, arthritis, and inflammatory bowel disease. We report a 26-year-old female with a complex immune phenotype, mainly marked by exhaustion, muscle weakness, and inflammation-related conditions. The molecular cause is unknown, and symptoms have been aggravating over the years.

Methods

Whole exome sequencing was performed and validated; flow cytometry and enzyme-linked immunosorbent assay were used to

SUBMITTER: Smeets E 

PROVIDER: S-EPMC9397552 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature