Huntington's Disease: The Science of a genetic disorder

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Күн бұрын

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)
www.hda.org.uk/
Huntington’s Disease Society of America (HDSA)
hdsa.org/
HD Reach (Helping families with Huntington’s disease)
www.hdreach.org/
BDNF Model by PK155
3dprint.nih.gov/users/pk155

Пікірлер: 14

@jessicarainey462 2 жыл бұрын

I've watched a bunch of other videos that talk about HD and THIS is what I've been searching for this whole time. Exact cellular mechanism. thank you so much for this!!! very well done video that honestly deserves a lot more views than what it has.

@yani1343 Жыл бұрын

This channel is so underrated. The video quality and voiceovers are great. Really bring future ahead. Keep going mate!

@adehughes3260 Жыл бұрын

Thank you so much for this video. HD is a terrible disease that gets very little exposure is popular media. Unfortunately, my family has had a lot of experience with it as it killed both my Father in 2009 and my younger Brother in 2014. Your channel is fantastic and I hope it goes from strength to strength.

@LearningCurveScience Жыл бұрын

I'm so sorry to hear that.

@devontheliontamer 7 ай бұрын

I feel you stay strong I watched a bunch of people in my family die from it now I got diagnosed at 23. My younger cousin just died from it, I just pray my kids don't have it

@mdavh2582 Жыл бұрын

You should have also mentioned that Huntington's is a dominnt genetic disorder, which is not normally the case for gentetic disorders. Meaning f you have it, there's a 50% chnce you'll pass it on, and therefore should definitely not have children. Also in the rare scenario some ends up HH as appose to Hh (h = normal recessive, H = infected dominant), those people don't tend to live very long t all.

@v.prestorpnrcrtlcrt2096 8 ай бұрын

I used to think that. I understand. These days, admittedly, I have a small nursing bias. Regardless. I was uncomfortable with a "50%" & "Never have children." Personally I don't believe in limits. They're just fun hurdles. & Who doesn't like to play?🙏🏼 The odds are 50/50 in your favour if you have a good smile.

@derekdjay Жыл бұрын

Documentaries about severe diseases showing cellular processes are some sort of horror films. Seeing proteins interfere with other proteins, knowing it's about those diseases, is strangely frightening.

@ReflectiveLayerFilm 2 жыл бұрын

Wow! This video was awesome and complex at the same time. Cell production is so complicated. I'm amazed that we're able to cure any disease considering what's actually going in in these cells. On another note. Is this your most complex 3d modelling to date? Those protein molecule along within the animation look complex. Great job.

@LearningCurveScience 2 жыл бұрын

Thank you very much. Medicine is such a fascinating subject. I think it probably was my most complex model, though to be honest there is a way of using protein models from the protein database (yes such a cool thing exists). Also fortunately dynein moves in quite a simplistic way. I dread having to model the movement of kinesin

@cheesedmacaroni Жыл бұрын

I love you biology videos! However when I was watching your A level biology series, one day it vanished from the face of your channel, what happened to it? And would there be more bio content to come?

@Juleka-and-roaar 9 ай бұрын

okay i wanted to make miraculous fanmade kwami when im older but is this desease or any others like CJD of fatal insomnia comes around then ima tell god to cure prions in heaven