What is the gene product for Huntington Disease?

• A. LDL receptor
• B. Pax6 transcription factor
• C. Fibroblast growth factor receptor-3
• D. Huntingtin

Answer: (D)

Huntington Disease is caused by a mutation in the HTT gene, which encodes the protein known as huntingtin. This gene product has a critical role in neuronal function and cell survival. The mutation typically involves an expansion of a CAG trinucleotide repeat in the gene, leading to an abnormal version of huntingtin that misfolds and aggregates, causing neuronal degeneration.

The other options provided refer to different gene products associated with various functions in the body. The LDL receptor is involved in cholesterol metabolism, the Pax6 transcription factor plays a role in eye development, and the fibroblast growth factor receptor-3 is involved in bone formation and development. However, none of these are associated with Huntington Disease, making huntingtin the correct gene product linked to the condition.