Huntington's Disease, Genetics, Pathology and Symptoms, Animation
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- Опубликовано: 8 янв 2018
- (USMLE topics, dementia) This video is available for instant download licensing here : www.alilamedicalmedia.com/-/g...
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Voice by: Sue Stern.
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Huntington’s disease, or HD, is an inherited neurodegenerative disorder in which brain cells are damaged and die over time, leading to progressive loss of mental and physical abilities.
The diseases is caused by an abnormal version of a protein named huntingtin, or HTT. A normal version of HTT has a stretch of 10-35 repeats of CAG nucleotide triplets, which encode for a stretch of the amino acid glutamine. In people with HD, the HTT gene has more than 35 CAG repeats, sometime more than 120 (juvenile onset). 26-35 = intermediate. The abnormally long stretch of polyglutamine changes the structure of the normal HTT protein, causing fragmentation and aggregations, which are toxic to nerve cells. The effect is specific in the basal ganglia of the brain, most notably in the striatum, which controls movement by inhibiting unwanted movements. This explains the most prominent symptoms of the diseases - uncontrollable movement, known as Huntington’s chorea - dance-like movements of the face and arms; and motor speech disorders, dysphasia aspiration - most common cause of death in HD patients.
A person has 2 copies of the HTT gene but one abnormal copy is enough to cause the disease. Children of an affected parent has a 50% chance of inheriting the abnormal copy of the gene, and hence the disease. This pattern of inheritance is known as autosomal dominant.
The onset and progression of the disease depends on the number of CAG repeats, or the size of expansion - the higher the number of repeats, the earlier the age of onset and the faster it progresses.
The high degree of repetition also increases the likelihood of inaccurate reading during DNA replication. The “confused” DNA polymerase may add more repeats as it loses track of repeat number. As the expanded HTT gene is transmitted to the next generation, the number of repeats often increases. This means a phenotypically-normal parent with 30-35 repeats may give his child a 40-repeats HTT gene who would develop the disease. As the size of polyglutamine increases from generation to generation, the onset of symptoms is getting earlier with each generation. This phenomenon is called anticipation.
An average person with a 40-50 CAG repeats in the HTT gene usually develop symptoms in their 40s. People with more than 60 repeats could show signs of the disease in their childhood (juvenile form). The first signs are subtle mental and cognitive disturbances that may go unnoticed. As the disease progress, chorea becomes most prominent, followed by motor speech disorders, rigidity, swallowing difficulty and dysphasia, personality changes, memory loss and other cognitive and psychiatric impairments.
Diagnosis is confirmed with genetic testing, genetics counseling is available for people with family history of HD.
Life expectancy in HD is generally around 10 to 20 years following the onset of visible symptoms. Most life-threatening complications result from muscle coordination with pulmonary aspiration, which also increases the risks of pneumonia, being the most common cause of death in HD patients.
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Thank you for this video. I'm studying molecular mechanisms of aging in university, and we're studying poly-Q disorders at the moment. This video helped me understand genetic anticipation since I had missed a lecture.
To all those asking and responding like its just a small thing try being the one who lives with Huntington's everyday. I have not one friend nor even a family member in my life any more and I'm getting worse. Its a big deal to me any way. And as it progresses daily the idea of a bullet sounds better every day
I'm so sorry to hear this... I'm an undergrad biomedical lab research student and I hope that one day I can help contribute to research that leads to a cure
@@ScheveSneeuwSchuifSchep I pray that as well.I have 4 adult children that have it and 3 have children one refuses to become a parent . I never knew my father or anything about this until 3 yrs. ago and my life has been hell l. My kids are all in different parts of the world (military spouses) and now blame me for this like I knew and had them anyway. Or like I did this to the on purpose and I hate it I hate that I'm loosing my ability to walk or feed myself . I've done animal rescue most of my life and can't do that even any more . I truly hate life
@@jodyrenee9847 whenever it is, I know I can’t say “I understand” because I can’t. Your situation is truly horrible, but don’t EVER think suicide is an option. Your life is worth more than Any disease out there. And as for your kids blaming you for having them, ignore it. Ignore it because you know when the day unfortunately comes, they’ll be at your funeral. Why did I say that? To show you that they love you. They might not show it right now, but it’s shock. It’s the idea that they have a 50/50 chance of getting the disease, and they still can’t accept that
Look, Go to counseling. Go to a church. Get closer to God (I’m a catholic, so I’ll say visit a priest). Make your kids take counseling as well. That’ll make you guys closer. But don’t ever give up the fight. Instead, thank God for every day you get to live
And one day there’ll be a cure to this disease. Maybe it’s not out yet, and I won’t lie to you and say there could be one tomorrow. But if it conforts you, one day, we’ll have one. It could be in time to save your kids. It could be there to save your future generations. Or hey, it could even be in time to save you. But don’t ever commit suicide. Don’t ever take away the life God decided to gift you.
Focus on 3 things now. Yourself (happiness), family, and religion. May God bless you
Wishing you all the best Jody. May your life be as enjoyable as possible, sending you love & hope you can reconnect with your family
I really am sending you my sincere thoughts and prayers. I have MS, it's not the exact same, but it's also a terrible condition. I just take it day by day and I'm in a lot of virtual support groups. I don't know if you've tried that but it's really helped me to find an understanding community. You don't have to deal with your condition alone. 🙏💛
Amazing video ☺️ thanks for your great effort ♥️♥️
this helped me so much with my project for biology! thank you!!
Great video
Thank you
PAIN!!!!! Why is nobody talking about the central neuropathic pain.
Nice
dear how can i download this video for my presentation?
help me plz
You can purchase a license to download it here (for presentation you only need our Student/Teacher license): www.alilamedicalmedia.com/-/galleries/narrated-videos-by-topics/dementia/-/medias/742d01b3-b60e-4087-b668-de922c9f107c-huntington-s-disease-narrated-animation
Is there a medicine to preserve the remaining cells?
فقط علاج لاجل تخفيف اعراض المرض 😢
My grandfather and father has Huntingtons disease but not my mother.. Im 23 and havent tested myself yet and Im honestly scared :(
I'm in same situation, my father got diagnosed 6 months ago, he used to be a pilot... he can barely take care of himself now. I am 26 and I also don't want to test myself.
@@BulkingSmeagol yeah its so frightening but me and my mother has decided that I should test myself (mostly me) because it really keeps me wondering all the time and I almost feel exhausted by thinking about it all the time I just wanna know so I can move on.. and If I have it Im just gonna try accept it and try to live as much as possible :/ my hobbies are very active sports like badminton, parkour so I wanna get the most out of it incase I wont be able to do it in the future 🥲🙏🏻 Just pray and hope everything works out man, We got this ❤️
@@eliaspkay I hope you don't have it! I myself am too afraid to do the test. My aunt tested herself last month and the results will come soon. We all think that she's in the very early stages but she doesn't seem to notice it herself.
I am facing a big dilemma myself as well. I made a decent career but my own life is more important than that. I also like sports like thaiboxing and fitness and I love to travel and explore even though i have invested the last 4 years of my life into my career. Seeing my father now gives me so much doubt. Sometimes I want to quit my job and just go on a world trip and see where it leads me, but testing myself would be the most extreme / scary thing imaginable...
ONE HAVE TO DO A TEST! Why? If you are heterozygous - instead of transferring it to your children and make them miserable - you can use artificial fertilization with the following test - so you will be able to choose to implant only healthy fertilized eggs - and have healthy children!
Does one become paranoid as well
Hi Jody.
Sadly the research shows that paranoia is a risk, especially for females, and with onset normally between the ages of 50 to 59 years old. I am concerned that you may not have all the help and support you need.
I feel that you could do with more support and may be able to find it in the HD support groups set up especially as a place to understand the disease, to offer hope and support, and mostly to feel not so isolated and hopeless. Google one closest to you perhaps?
Please also contact your psychiatrist as you see new symptoms. This is a disease that changes over time in symptoms, and each step needs a review to help you adapt and minimize the impact.
I hope that this helps a little
Ulcerative colitis please
Easter egg hunt an bank lol