Project Overview: Role of HTT in neurological disorders

Hi everyone! As part of SGC’s Extreme Open Science program, I’m going to be giving live updates on my project on the role of HTT in neurological disorders. As this is my first blogpost, I’ll start by giving an overview of my project.

The focus of my project is HTT and its role in neurological disorders. The gene HTT codes for the protein huntingtin and is heavily implicated in Huntington’s disease (HD), where death of neurons and lost of neuronal function leads to movement, cognitive and psychiatric impairment.

In people suffering from HD, it has been found that HTT is mutated in a region containing high numbers of CAG repeats. Normally, HTT contains around 6 to 35 CAG repeats. However, in people with HD, the number of CAG repeats are higher, with some up to over a hundred repeats. I am interested in investigating the effects the number of CAG repeats in HTT has on the biological function in cells. To do this, I will be introducing copies of HTT with different numbers of CAG repeats in mammalian cells and studying how this will affect the behaviour of the cells.

Although HTT is implicated in HD, the non-mutant form is present in all cells. However, its function in normal cells has not been well characterised. By varying the levels of normal HTT in cells and elucidating the effect this has on biological function, I am also hoping to further understand the role of HTT in a non-disease model.

Over my next few posts, I will be giving more background on HTT and HD, as well as explaining more about the techniques I am using for the project.

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