MOLECULAR APPROACH TO CLEFT LIP AND PALATE

Year 2022, , 235 - 243, 20.04.2022

Deniz Aşlar Öner , Hakki Tastan

https://doi.org/10.18229/kocatepetip.678661

Abstract

Cleft lip and palate is one of the most common birth anomalies world wide although its prevalence rate varies based on geographical origin, ethnic background, and socioeconomic status. The interaction of genetic factors and environmental factors such as maternal smoking, alcohol consumption, inadequate intake of folic acid, B6 and B12 vitamins during pregnancy can cause cleft lip and palate formation. Genetic studies on this disorder have investigated numerous candidate genes. MTHFR, MTR, MTRR, TGFβ and PVRL1 genes are important genes that cause cleft lip and palate. The inability to detect cleft lip and palate formation early is probably due to lack of knowledge of the mechanisms of gene expression patterns and action of effective signaling molecules that regulate lip and palate development during embryogenesis. Determination of the factors causing the cleft lip and palate etiology is very important in terms of prevention of cleft lip and palate formation and taking necessary precautions. In this review, it is aimed to determine the relationship between cleft lip palate disease and genetic factors.

Keywords

Cleft lip-palate syndrome, Polymorphism, Folic Acid, MTHFR deficiency

DUDAK DAMAK YARIKLARINA MOLEKÜLER YAKLAŞIM

Abstract

Dudak damak yarıkları, dünya genelinde görülen en yaygın doğum anomalilerinden birisidir. Görülme sıklığı, etnik geçmiş, coğrafi köken ve sosyo-ekonomik duruma göre değişkenlik göstermektedir. Hamilelik sırasında annenin sigara içmesi, alkol tüketmesi, folik asit, B6 ve B12 vitaminlerince yetersiz beslenmesi gibi çevresel faktörler ile beraber genetik faktörlerin etkileşimi, yarık dudak damak oluşumuna sebep olabilmektedir. Dudak damak yarıklarının genetik açıdan incelenmesi için birçok aday gen araştırılmıştır. MTHFR, MTR, MTRR, TGFβ ve PVRL1 genleri dudak damak yarıklarının oluşumuna sebep olan önemli genlerdir. Yarık dudak ve damak oluşumunun erken teşhis edilememesi, embriyogenez sırasında dudak ve damak gelişimini düzenleyen gen ekspresyon kalıplarının ve etkili sinyal moleküllerinin etki mekanizmalarının yeterli bilinmemesinden kaynaklanmaktadır. Yarık dudak ve damak etiyolojisine sebep olan faktörlerin belirlenmesi, yarık dudak damak oluşumunun önlenmesi ve gerekli tedbirlerin alınması açısından çok büyük önem taşımaktadır. Bu derlemede yarık dudak damak hastalığının genetik faktörler ile ilişkisinin belirlenmesi amaçlanmıştır.

Keywords

Yarık dudak-damak sendromu, Polimorfizm, Folik asit, MTHFR eksikliği

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