Unraveling the Mysteries: A Journey Through the History of the HTT Gene
Embedded Files
(Image Credit: Pixabay)
(Image Credit: MedlinePlus)
(Image Credit: Rare Disease Advisor)
November 20, 2023
Dave Achonu
12th Grade
Baldwin Senior High School
The HTT gene, also known as the Huntington gene, has been of intense scientific and medical research interest for decades. This gene is primarily associated with Huntington's disease (HD), a debilitating and devastating neurodegenerative disorder. The history of the HTT gene is a story of scientific exploration, breakthroughs, and the pursuit of a cure.
The HTT gene was discovered in 1993 by a team of researchers led by James Gusella and Marcy MacDonald. This discovery was groundbreaking, as it marked the first step toward understanding the genetic basis of Huntington's disease. They identified a repeated sequence of three nucleotides (CAG) in the HTT gene. The number of CAG repeats in the gene completely correlates with the age of onset and severity of the disease, with longer repeat sequences leading to an earlier onset and more severe symptoms.
The discovery of the HTT gene paved the way for genetic testing, allowing individuals at risk for HD to determine their genetic status, which had significant implications for family planning and life choices. It also prompted further research into the mechanisms underlying the disease. Over the years, researchers have delved deep into the HTT gene and the protein it encodes, called huntingtin. This protein's exact function in the human body is not yet fully understood but is believed to play a role in neuronal development and maintenance.
In addition to genetic testing, the study of the HTT gene has led to the development of potential treatments for Huntington's disease. Some therapeutic approaches focus on reducing the production of mutant huntingtin protein, while others aim to mitigate its toxic effects.
(Image Credit: Jawahar Swaminathan and MSD staff at the European Bioinformatics Institute)
Recent advancements in gene-editing technologies, such as CRISPR-Cas9, offer new hope for treating Huntington's disease by targeting the HTT gene directly. This approach holds the promise of modifying the gene to prevent or reverse the disease's progression.
(Image Credit: Pixabay)
The history of the HTT gene is a testament to human ingenuity and determination. The discovery of this gene and the subsequent research have deepened our understanding of Huntington's disease, provided valuable tools for diagnosis, and opened the door to potential treatments. While there is still much to learn about the HTT gene, the journey thus far has been filled with hope for those affected by this devastating condition. As science continues to advance, we can look forward to a future where Huntington's disease may no longer hold a fearsome grip on individuals and their families.
Reference Sources
Alkanli, Suleyman Serdar, et al. “CRISPR/Cas9 Mediated Therapeutic Approach in Huntington’s Disease.” Molecular Neurobiology, U.S.
National Library of Medicine, Mar. 2023,
www.ncbi.nlm.nih.gov/pmc/articles/PMC9734918/.
Chial, Heidi. “Huntington’s Disease: The Discovery of the Huntingtin Gene.” Nature News, Nature Publishing Group,
https://www.nature.com/scitable/topicpage/huntington-s-disease-the-discovery-of-the-851/#:~:te%20xt=Huntingtin%20(HTT)%20was%20the%20first,et%20al.%2C%201993. Accessed 7 Nov. 2023.
Saudou, Frédéric, and Sandrine Humbert. “The Biology of Huntingtin.” Neuron, vol. 89, no. 5, 2016, pp. 910–926,
https://doi.org/10.1016/j.neuron.2016.02.003.
https://www.cell.com/neuron/pdf/S0896-6273(16)00096-9.pdf.
“Htt Gene.” MedlinePlus, U.S. National Library of Medicine,
https://medlineplus.gov/genetics/gene/htt/#:~:text=The%20HTT%20gene%20provides%20instru%20ctions,for%20normal%20development%20before%20birth. Accessed 7 Nov. 2023.
Google Sites
Report abuse