Question

Huntington's Disease: The role of the protein targeted by the antisense

Answer 1

Ans. Huntington's disease is caused by an abnormally extended repeat expansion of the CAG in the HTT gene, which gives the mutant huntingtin (mHTT) protein predominant toxic benefit in function. Heritage with only one mutated clone leads to progressive neurodegeneration. Though researchers are still researching the exact purpose of huntingtin protein, it appears to play a critical role in functioning the nerve cells. Huntingtin interacts frequently with proteins which are present only in the brain. Huntingtin altered is therefore most disruptive to nerve cells, even though it is found throughout the body. The extended number of glutamine repeats in HTT protein leds to the formation of aggregation in neuronal cells. These aggregates impairs cell function and initiates neuronal cells death.

Role of HTT protein in normal neuronal cells- This protein may be involved in cellular signaling, transporting materials, binding proteins and other structures inside cells, and protecting the cell from cell death  (apoptosis).

Antisense oligonucleotides are offering fresh hope for researchers and patients to address the genetic cause of the disease. IONIS-HTTRx is an antisense oligonucleotide (ASO) an artificial chain of 12–25 nucleotides engineered to inhibit protein development from a particular gene like huntingtin (HTT) gene.