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CAG Trinucleotide Repeat

Meaning

A CAG trinucleotide repeat is a specific, recurring sequence of three DNA base pairs—cytosine, adenine, and guanine—that is repeated multiple times within a gene. This genetic sequence codes for the amino acid glutamine. When the number of these repeats exceeds a certain threshold, it can lead to a pathogenic expansion, resulting in an abnormally long polyglutamine tract in the corresponding protein. This expansion is associated with a class of neurodegenerative disorders, often impacting hormonal and metabolic regulation due to neurological dysfunction.