Tuğba TOPALOĞLU, Elif Funda ŞENER, Halit CANATAN

NÖROPSİKİYATRİK HASTALIKLARDA YENİ NESİL SEKANS TEKNOLOJİSİNİN KULLANIMI VE GÜNCEL YAKLAŞIMLAR

Geçtiğimiz yirmi yıl içerisinde psikiyatrik hastalıkların genetik temelinin anlaşılmasında olağanüstü gelişmeler yaşanmıştır. Bu alandaki gelişmeler bu hastalıkların altında yatan mekanizmalar ve bunlarla ilişkili genlerle ilgili önemli bakış açıları sağlamıştır. DNA dizileme teknolojilerindeki ilerlemeler sayesinde insan hastalıklarıyla ilgili birçok gen tanımlanabilmiştir. Ancak, nöropsikiyatrik bozuklukların altında yatan mekanizmalar halen bilinmezliklerini korumaktadır. Günümüz biyomedikal araştırmaların temel amaçlarından birisi de bu tip kompleks hastalıkların genetik etiyolojilerini ortaya çıkarmaktır. Yeni nesil sekans teknolojileri tüm genom veya tüm ekzonları sekanslayarak kompleks hastalıklardan sorumlu olabilecek genetik altyapıyı anlamamızı kolaylaştıracak güçlü bir araç olarak kullanılmaktadır. Bu teknoloji sayesinde dizileme işlemi geniş kapsamlı olarak hem düşük maliyetli hem de hızlı bir şekilde uygulanabilmektedir. Bu özellikleri nedeniyle de giderek daha yaygın kullanım alanına sahip olmaktadır. Yeni nesil sekanslama uygulamalarının yaygınlaşması ile elde edilecek bulgular, sadece nöropsikiyatrik hastalıkların değil diğer kompleks hastalıkların patogenezinin anlaşılmasını da kolaylaştıracaktır. Bu derleme depresif bozukluk, şizofreni ve bipolar bozukluk gibi kompleks nöropsikiyatrik hastalıkların genetik temellerinin anlaşılmasında yeni nesil dizi teknolojilerinin uygulamalarına odaklanmaktadır.

NEXT GENERATION SEQUENCING AND CURRENT APPROACHES IN NEUROPSYCHIATRIC DISEASES

There have been extraordinary advances in understanding the genetic basis of psychiatric disorders in the past two decades. Developments in this area have provided important insights into the underlying mechanisms and the genes associated with these diseases. With the advances in DNA sequencing technology many genes related to human diseases have become identifiable. However, the mechanisms are still unknown in neuropsychiatric disorders. Today, one of the purposes of the biomedical researches is to uncover the genetic etiology of such complex diseases. The next generation sequencing technologies have been used as a powerful tool for understanding the genetic etiology which is responsible for complex diseases by sequencing whole genome or all exons. Sequencing process can be performed both low cost and quickly with this technology. Due to these features, it has increasingly been used nowadays. Results obtained from the next generation sequencing will facilitate understanding not only the pathogenesis of neuropsychiatric diseases but also of other complex diseases. This review focused on the application of next generation sequencing technology for understanding of the genetic basis of complex neuropsychiatric diseases such as depressive disorder, schizophrenia and bipolar disorder.

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