What is the function of huntingtin protein?
What is the function of huntingtin protein?
Normal Function Huntingtin is found in many of the body’s tissues, with the highest levels of activity in the brain. Within cells, this protein may be involved in chemical signaling, transporting materials, attaching (binding) to proteins and other structures, and protecting the cell from self-destruction (apoptosis).
What protein is changed in Huntington’s disease?
It is inexorably progressive and leads to death of affected persons usually within 20 years after symptoms first appear. Individuals with the disease carry mutations that affect the huntingtin protein.
What protein is affected by HD?
The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to mutant Htt leading to neurodegeneration.
Which amino acid will occur more than 35 times in a Huntington’s protein?
In its wild-type (normal form), it contains 6-35 glutamine residues. However, in individuals affected by Huntington’s disease (an autosomal dominant genetic disorder), it contains more than 36 glutamine residues (highest reported repeat length is about 250)….Huntingtin.
| RNA expression pattern | |
|---|---|
| BioGPS | More reference expression data |
Does everyone have huntingtin protein?
Everyone has a gene that codes for huntingtin protein, a protein found in the cells of the body, which we will discuss later. Towards the beginning of this gene, the three-letter codon sequence C-A-G is repeated a few times.
What type of protein is huntingtin?
Huntingtin (htt) is a soluble 3144 amino acid (348 kDa) protein, with the highest levels of expression being found in the CNS and testes. The N-terminal 17 amino acids, or N17 region, has been identified as a critical region that plays a role in htt localization, aggregation, and toxicity.
What treatments are available for HD?
There is no treatment to stop or reverse Huntington’s disease, however there are some medications that can help keep symptoms under control. Treatment for HD includes the drug tetrabenazine, antipsychotic drugs, antidepressants, and tranquilizers. Patients who exercise tend to do better than those who do not.
Is Huntington disease only in males?
Huntington’s disease is caused by a faulty gene that results in parts of the brain becoming gradually damaged over time. You’re usually only at risk of developing it if one of your parents has or had it. Both men and women can get it.
Why does huntingtin protein damage cells?
There is evidence that huntingtin aggregates accumulate in the nuclei of cells, where they interfere with the process of transcription, and that they also affect other cellular processes such as axonal transport in neurons.
