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Following after the fatal genetic diseases that were caused by single nucleotide polymorphisms (SNPs) and cancer, HIV/AIDS had always been one of the primary targets of cell and gene therapies due to lack of any proper satisfactory treatment. Earlier gene therapy approaches were mostly trials about introducing anti-HIV genes to cells, using various viral vectors. These viral vectors performed integrations of the desired anti-HIV genes, sometimes correctly while sometimes between random wrong sequences. However, with the increased precision of new gene editing technologies, including ZFNs and the latest CRISPR-mediated gene editing systems (Clustered Regularly Interspaced Short Palindromic Repeats) more successful therapies have begun to be administrated. As an important example of therapy, the trial of Timothy Ray Brown which was followed by the "London patient", allowed the topic of gene editing techniques for treatment of HIV and AIDS to gain interest again. Can Akpinaroglu / Gene Editing Creative Commons Attribution 4.0 International License. www.genediting.net
ÖzetTrikotillomani (saç ve kıl koparma hastalığı) kişide devamlı saç yolumunun gözlemlendiği bir psikiyatrik bozukluk olarak tanımlanabilir. Bu durumun nörobiyolojisi net olarak bilinmemektedir. Bu nedenden dolayı tedavisi içinde kesin çözümler sunulamamaktadır. Molekğler genetik çalışmaları trikotillomaninin etiyolojisinin daha iyi anlaşılması ve bu bozukluğun tedavi edilmesi için büyük önem taşımaktadır. Günümüze kadar yapılan çalışmalar ile trikotillomani hakkında eldeki bilgiler kısıtlıdır. Yapılan moleküler analizler HOXB8, SAPAP3, DRD1, DRD4, SLC6A4 genlerinin hastalık ile ilişkili olabildiğine dair ipuçları vermektedir. Bu derlemede trikotillomaninin psikolojik ve fizyolojik temelleri ve sınıflandırılışı ve ardından da trikotillomaniye dair moleküler genetik çalışmalar, hayvan çalışmaları ve bozukluk ile ilişkili olduğu düşünülen genetik polimorfizmler anlatılacaktır. Eldeki bilgilerin derlendiği bu makalenin sonrasında gerçekleştirilebilecek olan moleküler çalışmalara da yön vereceğini ümit etmekteyiz. Anahtar Kelimeler: psikiyatri, genetik, polimorfizm Abstract Trichotillomania can be described as a psychiatric disorder where a recurring hair pulling behaviour is observed in an individual. Neurobiological causes of this condition is still unclear. Because of this, definite solutions can not be presented in the treatment. Molecular genetic studies are of great importance for a better understanding of the etiology of trichotillomania and for the treatment of this disorder. As of today, our knowledge and information about trichotillomania is limited. The molecular analyzes made suggest that HOXB8, SAPAP3, DRD1, DRD4, SLC6A4 genes may be related to the disease. In this review, the psychological and physiological basis and classification of trichotillomania will be followed by genetic polymorphisms that are thought to be related to molecular genetic studies, animal studies and disorders of trichotillomania. We hope that this article will also guide to the further molecular studies that can be carried out in this subject.
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