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

Author: BückenLeoni, ClaessensFrank, DevliesWout, EerlingsRoy, El KharrazSarah, HandleFlorian, HelsenChristine, HuangShengyun, Humblet-BaronStephanie, LeeXiao Yin, MorisLisa, PrezzemoloTeresa, RochtusAnne, SmeetsElien, Van NieuwenhoveErika, Van SchepdaelAnn, VoetArnout, WillemsenMathijs, de ZegherFrancis

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Overview

This case report describes a 26-year-old female with a complex immune phenotype, mainly marked by exhaustion, muscle weakness, and inflammation-related conditions. The cause of her symptoms is unknown, but the involvement of the LTB4 pathway is suspected.
Paper Details　
Original Abstract of the Article :
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 L...See full text at original site
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引用元：
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9397552/

データ提供：米国国立医学図書館（NLM）

A Disease-Associated Missense Mutation in CYP4F3

The human body is a complex symphony of interconnected systems, and this study investigates a fascinating aspect of this symphony. The research explores the role of a missense mutation in the CYP4F3 gene, which is responsible for the metabolism of leukotriene B4 (LTB4). This research is like uncovering a hidden melody in the vast orchestra of the human body.

Complex Immune Phenotype and the LTB4 Pathway

The study describes a 26-year-old woman with a complex immune phenotype, characterized by symptoms such as exhaustion, muscle weakness, and inflammation-related conditions. These symptoms are like a disharmony in the body's symphony, disrupting the normal balance of the immune system.

Impact on Leukotriene B4 Metabolism

The research focuses on the disruption of electron transfer caused by the missense mutation in CYP4F3. This disruption affects the metabolism of LTB4, a key component of the innate immune system. This discovery is like revealing a critical note that influences the overall harmony of the immune system.

Dr. Camel's Conclusion

This research is a reminder of the intricate dance of genes and proteins in the human body. The study underscores the importance of understanding the role of CYP4F3 in immune function and provides a starting point for further research into the development of personalized treatments for complex immune disorders.

Date :
  1. Date Completed 2022-08-25
  2. Date Revised 2022-09-22
Further Info :

Pubmed ID

35686338

DOI: Digital Object Identifier

PMC9397552

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in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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