CAGismétlésszámát

CAGismétlésszámát is a Hungarian term that translates to "CAG repeat number" or "CAG repeat count" in English. It refers to the number of times a specific DNA sequence, cytosine-adenine-guanine (CAG), is repeated consecutively within a gene. This particular triplet repeat sequence is significant because its expansion beyond a normal range is associated with several neurodegenerative diseases.

The most well-known condition linked to CAGismétlésszámát is Huntington's disease. In healthy individuals, the CAG sequence in the huntingtin gene typically repeats a limited number of times. However, in individuals with Huntington's disease, this repeat number is significantly higher, leading to the production of an abnormal huntingtin protein. This abnormal protein is toxic to brain cells, particularly in the basal ganglia, causing progressive motor, cognitive, and psychiatric symptoms.

Other neurological disorders, such as spinocerebellar ataxias (SCAs) and spinal and bulbar muscular atrophy (SBMA), are also caused by expansions in CAG repeats within different genes. The specific gene and the extent of the CAG repeat expansion determine the type and severity of the disease. Genetic testing to determine the CAGismétlésszámát is a crucial diagnostic tool for these conditions, allowing for early identification and management. The variable nature of CAG repeat numbers also contributes to the variability in disease onset and progression observed among affected individuals.