The magnificent quintet of trinucleotid repeat disorders: Spinal and bulbar muscular atrophy, Huntington’s disease, Friedreich ataxia, myotonic dystrophy, and fragile X syndrome
Muhammet Fatih Ekşi1, Melisa İdil Bilgin1, Ali Kaan Akyüz1, Hatice Karaca1, Oğuz Kaan Bozo1, Oytun Erbaş2
1Biruni Üniversitesi Tıp Fakültesi Öğrencisi, İstanbul, Türkiye
2İstanbul Bilim Üniversitesi Tıp Fakültesi Fizyoloji Anabilim Dalı, İstanbul, Türkiye
Keywords: Fragile X syndrome; Friedreich ataxia; Huntington’s disease; myotonic dystrophy; spinal and bulbar muscular atrophy
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.