CAG Repeats

Huntington’s Disease Breakthrough: Slow-Growing Mutation Unveiled

A new study reveals that the Huntington’s disease mutation, while present from birth, remains harmless for decades. The mutation gradually expands, increasing the number of CAG repeats in a specific gene. Once the repeat count surpasses approximately 150, a threshold is reached, triggering the production of toxic proteins and subsequent neuron death. This neuronal degeneration accounts for the disease’s characteristic symptoms, which typically manifest between ages 30 and 50. These findings suggest that inhibiting the expansion of CAG repeats may be a more effective therapeutic strategy than targeting the toxic protein itself.

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