İnsan Sağlığına Nütrigenetik Bir Bakış: Yağ Asiti Desatüraz Enzimleri (FADS) Kodlayan Genlerde Tek Nükleotid Polimorfizmleri

Abstract

Uzun Zincirli Çoklu Doymamış Yağ Asitleri (UZ-ÇDYA) insan vücudunda gerçekleşen fizyolojik süreçlerde son derece önemli roller oynayan maddelerdir. Bu maddelerin seviyeleri ve kompozisyonu diyet yoluyla direkt tayin edileceği gibi,  yağ asiti prekürsörlerinin yine diyet yoluyla alımı ile belirlenebilmektedir. Yağ asiti prekürsörleri endojen olarak yağ asiti desatüraz enzimleri tarafından uzatılarak ve desatüre edilerek fizyolojik aktif UZ-ÇDYA’lerine dönüştürülürler. Yağ asit desatüraz enzimleri FADS genleri tarafından kodlanırlar. Bu gen kümesinde tek nükleotid polimorfizmlerin (SNP) ω3- ve ω6-yağ asitleri seviyeleri ile yakından ilişkisi bulunmaktadır. Beslenme olgusu yanında, genetik faktörler de UZ-ÇDYA regulasyonunu etkilemektedir. Desatüraz enzim aktivitelerindeki değişimlerin sellüler seviyede yağ asiti oranlarını ciddi şekilde etkileme potansiyelleri bulunmaktadır. Sellüler seviyede gerçekleşen yağ asiti değişimleri biyolojik süreçleri de etkilemektedir. Bu derlemede yağ asiti desatüraz enzimleri kodlayan FADS genlerinde tek nükleotid polimorfizmler üzerinden ve insan sağlığına nütrigenetik bir bakış verilmesi amaçlanmıştır.

Keywords

• Desatüraz,FADS geni,Yağ asiti,Sağlık,Nütrigenetik

A Nutrigenetic Overview to Human Health: Single Nucleotide Polymorphisms in Fatty Acid Desaturase (FADS) Encoding Genes

Abstract

Long-chain polyunsaturated fatty acids (LC-PUFAs) play an important role in some physiological processes in the human body. Their level and composition are highly dependent on their intake in the diet or on the intake of fatty acid (FA) precursors. The fatty acid precursors are endogenously elongated and desaturated to physiologically active LC-PUFAs by the fatty acid desaturases (FADS), encoded by FADS gene cluster. The single nucleotide polymorphisms (SNPs) in these genes are highly associated with the concentration of ω3- and ω6-fatty acids. Beside nutrition, genetic factors also play an important role in the regulation of LC-PUFAs. Changes in desaturase activity have potentially large impacts on cellular FA content, which consequently influences numerous biological processes. A genetic variation in the LC-PUFA biosynthetic pathway, especially within the FADS gene cluster, determines the levels of circulating and tissue PUFAs and several biomarkers. In this review, we aimed to provide an nutrigenetic overview to the human health over single nucleotide polymorphisms in the fatty acid desaturase (FADS) encoding genes. 

Keywords

• Desaturase,FADS gene,Fatty Acid,Health,Nutrigenetics

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