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

Year 2017, Issue: 1, 49 - 58, 26.04.2017

İsmail Hakkı Tekiner , Nuray Şengül , Bakiye Nur Varlı , Elif Kestir Leila Mehdizadeh Tapeh Simge Kaya

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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