HTT : huntingtin
Huntingtin Gene: A Complex Enigma in Human Health
Description:
Nestled within our genetic code lies the HTT gene, a blueprint for creating huntingtin, an enigmatic protein whose intricacies hold both hope and despair. While its precise role remains elusive, huntingtin is believed to be a vital cog in the symphony of neurons within our brains, orchestrating normal development before birth. Its presence is ubiquitous throughout the body, with the brain boasting the highest levels of activity. Within cells, huntingtin‘s repertoire extends from chemical signaling to transporting materials, binding to other molecules, and safeguarding the cell from self-destruction. Intriguingly, it‘s also implicated in the intricate dance of DNA repair.
Associated Diseases:
The HTT gene carries a sinister secret within one of its regions: the CAG trinucleotide repeat. This segment, composed of three building blocks of DNA (cytosine, adenine, and guanine), typically repeats between 10 and 35 times. However, in some individuals, this repeat becomes abnormally elongated, leading to devastating consequences.
- Huntington‘s Disease (HD): When the CAG repeat exceeds 39 repetitions, the genetic blueprint becomes corrupted, resulting in Huntington‘s disease. This inherited neurological disorder wreaks havoc on the brain, causing progressive cognitive decline, motor impairments, and emotional disturbances.
Did you Know ?
The prevalence of Huntington‘s disease varies across populations. For instance, it affects approximately 1 in 10,000 individuals in the United States, while in certain regions of Venezuela, the frequency reaches 1 in 4,500. This disparity underscores the complex interplay between genetic and environmental factors in disease development.
