GAATrinukleotidWiederholung

GAATrinucleotide repeat (GAATR) is a type of genetic mutation characterized by the repetition of the trinucleotide sequence GAAT. These repeats are found in various regions of the human genome, including non-coding regions and introns. GAATRs are associated with several genetic disorders and diseases, including fragile X syndrome, Friedreich's ataxia, and spinocerebellar ataxia type 17. The length of GAATR sequences can vary among individuals, and expansions in these repeats are often associated with disease pathogenesis. The mechanisms underlying the pathogenicity of GAATRs are not fully understood, but they are believed to involve the disruption of gene expression, protein function, or cellular processes. Research into GAATRs is ongoing, with a focus on understanding their role in disease and developing potential therapeutic strategies.