The magnificent quintet of trinucleotid repeat disorders: Spinal and bulbar muscular atrophy, Huntington’s disease, Friedreich ataxia, myotonic dystrophy, and fragile X syndrome

Year 2018, Volume: 4 Issue: 4, 219 - 224, 03.01.2019

Muhammet Fatih Ekşi Melisa İdil Bilgin Ali Kaan Akyüz Hatice Karaca Oğuz Kaan Bozo Oytun Erbaş

Abstract

Apart from cultural and scientific heritage, human beings can also inherit genetic disorders, such as trinucleotide repeat disorders. These disorders, with the genetic accumulation of repeat sequences, may cause disease in following generation and may lead to even more severe diseases in future generations. Although the formation mechanisms of many of these disorders are known, there are no findings on treatment aside from eliminating symptoms. This review will provide a general and up-to-date overview of some of the trinucleotide repeat diseases.

Keywords

Fragile X syndrome, Friedreich ataxia, Huntington’s disease, myotonic dystrophy, spinal and bulbar muscular atrophy

Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu

Abstract

İnsanoğlu kültürel ve bilimsel miraslarının dışında trinükleotid tekrar hastalıklar gibi genetik sorunlarını da miras bırakabilmektedir. Bu bozukluk tekrar dizilerinin birikimiyle birlikte gelecek kuşaklarda hastalıklar oluşturabilmekte ve sonraki kuşaklarda daha ağır tablolara yol açabilmektedir. Birçoğunun oluşum mekanizması bilinse de tedavileri hakkında semptomları gidermek dışında bulunabilmiş bir sonuç mevcut değildir. Bu derlemeyle trinükleotit tekrar hastalıklarının bazılarına genel ve güncel bir bakış sağlanabilecektir.

Keywords

Fragil X sendromu, Friedreich ataksisi, Huntington hastalığı, miyotonik distrofi, spinal bulbar musküler atrofi

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