Huntington's Disease: The Science of a genetic disorder

Huntington’s disease is a terrible degenerative disorder that robs you of your memories, your movement and eventually your life, but in this video I want to look at the science of this inherited condition.
Located on the short p arm of chromosome 4 is the HTT gene. This gene codes for a protein called huntingtin, so what is the role of this protein. Well it isn’t fully understood exactly what this protein does, but it looks like it has a number of different functions within cells, so let’s have a look at those.
Huntingtin is involved in cell transport and also keeping cells alive. The gene for the normal huntingtin protein has a region near to the beginning which consists of the same 3 bases repeated multiple times. These bases are CAG, and this codes for the amino acid glutamine. In a person with Huntinton’s disease, the huntingtin protein is shaped wrong so it can’t do it’s normal job. In addition the wrongly shaped protein damages the cells over time. Below I’ve put some links to Huntington’s support organisations.


Huntington’s Disease Association (UK)
https://www.hda.org.uk/

Huntington’s Disease Society of America (HDSA)
https://hdsa.org/

HD Reach (Helping families with Huntington’s disease)
https://www.hdreach.org/

BDNF Model by PK155

https://3dprint.nih.gov/users/pk155