CAGTrinucleotideRepeats

CAGTrinucleotide repeat disorders are a group of genetic conditions caused by the expansion of a specific trinucleotide repeat sequence in the DNA. The most common trinucleotide repeat is CAG, which codes for the amino acid glutamine. These disorders are characterized by the expansion of the CAG repeat in the coding region of a gene, leading to an abnormal protein product. The length of the CAG repeat is directly proportional to the number of glutamine residues in the protein, which can affect its function and stability.

The CAG repeat disorders are typically inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene from one parent is sufficient to cause the condition. The severity of the symptoms can vary depending on the number of CAG repeats and the specific gene involved. Some of the most well-known CAG repeat disorders include Huntington's disease, spinocerebellar ataxias, and dentatorubral-pallidoluysian atrophy.

Diagnosis of CAG repeat disorders is typically performed using genetic testing, which involves analyzing the DNA sequence of the affected gene. Treatment options for these disorders are limited, as they are caused by a genetic mutation that cannot be corrected. However, management strategies may include medications to alleviate symptoms, physical therapy, and supportive care. Research is ongoing to develop potential therapies that could slow or stop the progression of these disorders.