Huntingtin Protein and Protein Aggregation

What Causes the Onset of HD?

An Explanation of Terms:
Please note that although "Huntington's disease" is spelled with an "o," the correct spelling of the protein involved is "huntingtin" with an "i." The scientific literature on HD refers to the gene as both the "Huntington gene" and the "huntingtin gene." For the purposes of this website, we will refer to the gene as the "Huntington gene" or the "HD gene."

Current research shows that there is an abundance of information to be learned regarding the genetic origins of HD. Let’s trace HD’s beginnings from the molecular level, exploring the relationships between a gene, a protein, aggregation “clumps,” neural cell death, and the disease itself.

1. The Gene
• The Huntington gene
2. The Protein
• What is the function of huntingtin protein?
• How can the structure of huntingtin be altered?
3. From altered huntingtin to neural cell death
• Does mutant huntingtin protein itself kill nerve cells?
• Altered huntingtin and CREB-binding protein
• Altered huntingtin and the ubiquitin-proteasome system
• Why is the altered form of huntingtin not broken down by the cell, as normally occurs with irregular proteins? 
• What is the process by which protein aggregates interfere with the UPS system?
• How caspase-6 inhibition may prevent the development of HD
4. Conclusion
• Future challenges for huntingtin research

Last Modified: 9-13-02

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