CAG Repeats ∞ Area

CAG Repeats

Meaning

CAG Repeats are specific DNA sequences, Cytosine-Adenine-Guanine, found repeatedly within certain genes. Pathological expansion of these trinucleotide units beyond a normal range leads to proteins with abnormally long polyglutamine tracts. These expanded tracts disrupt cellular function, marking inherited neurodegenerative disorders.

Context

These genetic expansions occur within coding regions of genes, translating into altered proteins. They associate primarily with inherited neurodegenerative polyglutamine diseases, including Huntington’s disease and various spinocerebellar ataxias. The length of these repeats directly influences disease onset and severity, predominantly affecting the central nervous system.

Significance

Clinically, CAG repeat expansions are critical diagnostic markers for progressive neurological disorders. Their identification provides a definitive diagnosis, enabling precise genetic counseling and allowing clinicians to anticipate symptom trajectories. Understanding repeat length aids prognostic assessment and informs family planning for affected individuals.

Mechanism

The pathogenic effect of expanded CAG repeats stems from their transcription and translation into proteins with abnormally long glutamine segments. These elongated polyglutamine tracts cause proteins to misfold, aggregate, and accumulate within specific neuronal populations. This leads to cellular toxicity, progressive neuronal dysfunction, and eventual cell death, resulting in neurological symptoms.

Application

Clinical application of CAG repeat analysis involves genetic testing for individuals presenting with symptoms or those at genetic risk. This diagnostic process employs molecular techniques to precisely quantify the number of CAG repeats within the relevant gene. Results inform patient management, guide early intervention, and are fundamental for clinical trial participation.

Metric

Measurement of CAG repeats is performed through molecular genetic assays, usually on DNA extracted from a blood sample. Techniques like polymerase chain reaction or fragment analysis accurately quantify the number of trinucleotide repeats. A specific threshold for pathogenicity exists; more repeats often correlate with earlier onset and increased disease severity.

Risk

Genetic testing for CAG repeat expansions carries significant implications, particularly without comprehensive genetic counseling. Misinterpretation, psychological distress, and absence of disease-modifying treatments present challenges. Potential for discrimination and family impact must be carefully considered within a supportive clinical framework.

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