Duchenne Muscular Dystrophy and Dystrophin
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- Опубликовано: 29 сен 2024
- Duchenne Muscular Dystrophy (DMD) is an genetic muscle-wasting disease that leads to disability and early death. In all cases of this disease, the gene for a protein known as dystrophin is mutated. How does a dysfunctional dystrophin gene cause DMD? Find out in this episode of Medicurio.
Interesting to note: Becker's Muscular Dystrophy is a similar disease, but with much milder symptoms. People who have this disease also have a mutation in the dystrophin gene, but instead of making completely useless dystrophin, the protein is still semi-functional. People with Becker's dystrophy have much slower muscle wasting and live into the 50's and 60's.
Cool links to check out to learn and donate to DMD research:
Cure Duchenne: www.cureduchenn...
Muscular Dystrophy Canada: www.muscle.ca/
Muscular Dystrophy Association: www.mda.org/
Excellent video on how Exon Skipping works, courtesy of Cure Duchenne: • Prosensa's Video Anima...
The full process to get from DNA to protein is outlined in the central dogma of biology.
1. Genes are in the nucleus of the cell as DNA.
2. RNA polymerases make an RNA copy of the gene, known as the primary RNA transcript or pre-mRNA.
3. The primary RNA transcript undergoes some processing, such as splicing exons together.
4. mRNA exits the nucleus and into the cytoplasm, where ribosomes read the mRNA one codon at a time. Each codon corresponds to a certain amino acid or a stop codon.
5. Amino acids are linked together until a stop codon is reached, finishing the protein.
You can find a realistic animation of this process here, courtesy of the DNA Learning Centre: • The Central Dogma of B...
![DDG & G Herbo - Nosey [Official Video]](http://i.ytimg.com/vi/I9Ra0Zc2NlQ/mqdefault.jpg)
The more I watch it, the more I understand or learn something new.
This video is lesson 3 in my biology class, and at the beginning of class, my biology teacher warned us it would knock our socks off. I agree. This video is like foreign language.
This video taught me more about this disease than any doctor I've been to. Its hard to find answers when no one understands it.
agree
I have dmd and now i even understand it more cause of this video
rl
Anyone watch this at school
Most doctors are money-chasers. And none of them want to hear any info any patients has to give them. It's a blow to their inflated egos that you know more than they do.
One of our family friends had 3 sons with this. They died at 27, 31, and 36.
Very insightful. Please keep making these awesome videos. Thank you.
Thank you soo much. 🥰🥰
Nicely explained with all necessary facts.
V. Good explanation.
Interesting! Thank you so much for an awesome video!
Thank you very very much
Thank u so much!
I thought DMD completely didn't have the presence of dystrophin, while BMD DID, but not enough?
Beautiful tyy
I have ducchene muscular dystrophy I am 21 years old but I can walk. Sometimes falls
can we take creatine supplement to make strengthen the muscles..
I suffer limb girdle muscular Dystrophy
AMAZING keep up the good videos :)
Thank you!
pov your in bio and seeing this
🏋🏽♀️🔥
videos are nice, but I would say practice more without a script. it sounds like your reading word for word.
Thanks for the feedback! I'll work on that for the next video.
Welp i'm going to die at 20-30
Why? Maybe you wont if you do something to prolong your life. I have dechenne and i know how to deal with my disease with the help of my mom of course.
weeelp me too
@@CrazymarioO-cf9yf what you do to cure dmd?
i have 2 boys and both are effected by DMD. :(
That is very sad to hear :( I hope treatment is developed soon enough for them to get better! I have some links in the description to various DMD organizations that you may find useful to look at.
this vid covered my entire 4 week biology unit in eight minutes
School is slow and to teach as many as possible they slow it way down
No tears in my eyes to cry....
No any feeling when Im breathing ...
No nothing to do anything except prying ....
Im alone in this world ....
My cute son with this problem DMD.....so sad....
If therei is any energy hidden somewhere ...
Please help to find success treatment for this ....
As soon as possible ...
Still have a tiny hope till last breath ......😪😪😪😪
Sorry about the hiatus! Last few weeks were final exams, so I was bogged down with studying for my classes.
You should make a reddit account and post your video in different sub-reddits. So more people can watch the videos.
I have my own subreddit here: reddit.com/r/medicurio
Why would you want to study something that is naturally going to happen? haha JK! It is like can you just send a innocent person like this down the mental ward hill?
I do physiotherapy of 48 years old patient of Duchenne Muscular Dystrophy. Problem Of Chronic Forward Head Posture. Stay strong everyone with this Disease. No research can decide your life span..Stay Active and do regular exercise ..🙏🏻I also saw patient of Facioscapulohumeral Muscular Dystrophy(FSHD) and Becker Muscular Dystrophy (BMD)..
Hi . I am from nepal. I am suffering from Becker muscular distrophy
Sorry to hear. Stay strong!
I hope you get well soon!
Treatment please tell
My freind died because of this disease. It's hard to listen to this but its very educational and thanks for that.
So sorry to hear that
At what age your friend died?
@@ninjagaminglive6587 He was only 14 years old at the time
@@SiggiAriOlafsson my brother have this problem he is 21 but I don't know which type he is having
Hi! I have a question I hope you could answer. If calcium is doing the main damage to the muscle cells, would it make any good to greatly reduce or try to eliminate completely calcium from one's diet?
you need calcium for your bones, heart and muscle. you also lose bone mass when you don't get enough calcium which really does more harm.
0:36 weird flex but ok
Thank you for the simple visuals and clear explanation! Helps those of us struggling to read through heaps of information.
TZ sent me here, also as a part of the medical field.
Please tell me soluation of that diecies my saffering now he is only 4 year old
This is cool content! Keep up the good work!
I know someone that is 24 with DMD.. i feels so bad for these people
Hi, I'm doing a research paper on this disease and I had a couple of questions.
1. What determines which muscles are affected or the ones that are weakening? it varies from a family history to another but is the gene mutation random or how does it work? The symptoms are different for each person. For instance, for some people their leg muscles are the ones weakening but for others it's their shoulders yet they have the same disease. What exactly determines this?
2. Why does it get worse with each generation? Does the excessive number of the nucleotides sequence multiply or is there another reason?
3. Also, for the weakening muscles can exercice reduce this process in order to prevent the disease in a way or is it just an internal issue in the muscles as it explains in the video such as getting rid of important proteins?
Thank you!
1. Likely dependent on the mutation (is dystrophin completely dysfunctional? Slightly functional?) and lifestyle (more or less exercise? What muscles are used more often?)
2. Don't think it gets worse over generations (let me know if you find something that says otherwise).
3. Proper types of exercise seem to delay some muscle wasting, but is very controversial as too much exercise can also exacerbate the condition. "Use it or lose it" is often said for people with DMD. Read more about it here: www.ncbi.nlm.nih.gov/pmc/articles/PMC2929216/
Incredible and so succinct. I have definitely subscribed to see what else you are hiding up your sleeve.
many many thanks. I am a doctor, still it helped me a lot.
I have been suffering from this disease since I was 15 years old and I am currently 27 years old. Is there a treatment? Please reply😢😢😢
amazing video..v well explained & v good videography😊👍
Very helpful video thank you! I've subscribed
Thanks a lot 🙏 for ur guidance May god shower 😇all his blessings and love on u and u stay blessed always
I have a non server form of MD thats not as bad but the pain can still be awful
Cheer~~~a disorder in which an organ or tissue of the body wastes away.😢
I'm from Turkey. İ watch this video and its great. Thank for video. My brother has dmd. Doctors says there is no cure. He is 30 years old. Last year he cant breath so doctors open trake way and give us breath machine. Now he can breath. İ and all of my family know that there is no cure for my brother. Now we are worry about have babys. What we have to do for know that will babys of us carry that dystrophy or not. Or when my wife or my sister pregnant doctors can learn that the babys have that illness or not?
Hlooo bro please reply me i want to discuss with u
Nice explanation!!!!!
Hall Sandra Thompson Elizabeth Miller Barbara
Pero hay tratamiento o no joder que nos estamos muriendo ostias..
Gene therapy should really help BMD why isn't there enough research being done into gene therapy China seem to be the leaders.
What can I say? Feeling how the blisters on my torso began to shrink within 3 days was very soothing, I applied what I talked about the other day and in two weeks the pain was gone. I just go’ogled Kaena Ramingler’s Shingles Solution and now I feel as smooth and relaxed as I've ever been.
My son has muscle dystrophi cogenital megaconial, a very rare muscle dystrophi, I dont know much about this disease, there is alittle information on the web sinse it is rare, do you know about it, can you help me, I will as well set him into clinical trials, but I dont know how. He is 3.5, stable, talks and shows a difficulty in learning, but understands and make himself understood..please any tips if you have.
A number of defective genes that can cause this class of symptoms are mannose related. Yeast is 9% mannose, and contains GDP mannose linked proteins so taking some brewers or bakers yeast each day might help.
I have Duchenne Muscular Dystrophy is there any treatment I want help please
i have it and i'm beating the odds, work in heavy construction and lift weights at gym, 20 years old.. even though i struggle sometimes i push through
Great video. It would be nice to have a note somewhere in the video about the relationship to lack of dystrophin and the psychological effects it has on the brain. Most parents are not warned about that and can be blind sided.
Many believe the lack of dystrophin in the brain is linked to duchenne patients having adhd and/or ocd
Great video! I loved your emphasis on what destroys the muscles. Looking forward to checking out your other videos
Im not a medical doctor by any means but from what I can gather this is a degenerative disease that could be fatal later on down the road, For the longest time I thought that my friend with muscular dystrophy was not gonna make it but with some platelet replacement and anabolic steroids I think that he might have a chance
Anyone else watch this video at school?
Theory! The mRNA technology used in the COVID vaccine might just be the way to cure muscular dystrophy.
Question, can a patient have becker muscular dystrophy and Atherosclerosis? If so what is the chance of living a long life?
This is amazing! thank you for the elucidation
Finally a proper explanation to something I lived with and ever (Becker's btw) and even i didn't understood in its totality. Thank you very much.
Contact doctor Akhigbe for your cure with his herbal medicine
Email him now
My brother has it and he’s 26
I have it and I just turned 26 yesterday
@@malevolent1698 are you taking any medical treatment for this ? One of my relative have this disease he is only 4yrs old. Plz help and guide me ?
Please send your mob no ..or call on 7019370883 i need ur help
@@amitkr495 hiiii bro can i help u?
tnx man . So much Informative💖💖💖💖
Great job! Your explanation of gene mutation and why it leads to damaged proteins was well done, and it might make for a good video to explain the other types of mutations aside from frame shift and how they cause many different diseases and disorders.
Otherwise, I will say this disease you covered today is especially horrible and debilitating and I truly hope advances in gene therapy can prevent the suffering it causes.
Thanks! You're absolutely right, it is a devastating disease. I'm considering making a video just about just mutations and inheritance soon.
Something no one has answered me about is: Can dystrophin be synthesized or harvested from healthy individuals and infused into patients?
Carrot water juice.
Particular water to carrot.
Grow this particular way and soak with a green hay.
Net el
Where did that come from?
I have two brothers who got this a 14 year old and a 7 year old
I’m confused about the caluim bit because I have this
076 Oberbrunner Shoals
I failed on my bio test because I failed to explain how gene expression is related to DMD.
Where are your sources?
Amazing one thanks for the explanation ❤️❤️❤️👍👍👍🙏🙏🙏
I don't know why stop making videos 💔but i hope u come back
You're amazing. Thank youuuu!!!!!
6:57 for personal study (gene therapy)
Man you are amazing☺️
thank you very much!!!💜💜💜💜
now gene replacement is a thing
Helpful indeed:)
✌️
6277 Lelah Road
Amazing video , really helped me a lot! Thank you.
My bro also suffering from this distrophy plz pray for him
I pray for everyone like me with this disease to get better by the power of God!!!!!
Bro please reply me my brother also suffering from it
Please help me my son suffering now he is only 4 year old
Unfortunately as I am only a medical student I am limited to what I can do. Please see a doctor as soon as possible.
Please pray for my son
I cant sleep when i know about this
Please research Dr Robert Morse on RUclips🍇💕
Pls help my brother offect duchenne muscular dystrophy
And if a female carrier inactivates the X chromosome in which she has the proper cope the gene ( I mean making the Barr body ) then she has a mosaic phenotype for the dystrophin gene?
Yes, although it is much rarer for females to have DMD, in 2-8% of female carriers, incomplete X inactivation of the mutated dystrophin gene can make them "manifesting carriers" with muscle and heart symptoms (although much less severe than in males).
Viggiano E, Picillo E, Cirillo A, Politano L. Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. Clin Genet. 2013;84(3):265‐270.
Thank you so much, it's so helpful and clear
Explains in very simple and easy way, like this vedieo
Thank you so much, it's so helpful and clear
I committed blasphemy and I don't want to die because the only sin that God does not forgive is blasphemy
thank you for sharing this knowledgeable information especially to us as a student
i love this video so much
Ford Estate
I have this disease and its really stupid... REEEEEEEEEEEEEEEEEEEEEE... It has made me need 2 surgerys
me too kid me too. this disaese is basically Thanos smh i cant even talk properly anymore
Very useful pa .
Can anyone please help me with the treatment details. My cousin 9 years old has the same problem. It started 3 years. At the beginning he is able to walk support now he is not able stand also. My family is struggling a lot. They are in depression. If anyone knows it please help me. It can change my little brother life. Please please please please 😭😭😭😭😭
I am so sorry to hear your cousin and family going through this terrible crisis. Unfortunately there is no cure for DMD but there are treatments that can treat symptoms that you should discuss with your doctor. The Mayo Clinic has a good website on treatments: www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394
Hiiiii my brother also have this I would love to talk with people who have this disease
Thank you! Nicely presented
Do you happen to have any links, I can't seem to find any relating to how calcium protease and muscular dystrophy actually relate...
Here are two papers:
www.ncbi.nlm.nih.gov/pubmed/6096040
jgp.rupress.org/content/136/1/29
I have a question, in minute 2:00 shows a protease, is that aldolase? since lab work shows increased CK and aldolase, great video by the way
Not an aldolase, aldolases break down sugars while proteases break down proteins. Aldolase is found in muscle cells though. High CPK (Creatine phosphokinase) and aldolase means that there is muscle damage because it means that these enzymes have leaked out of the muscle cells and into the blood.
فقط ربي المشافي
People complain about cancer being awful and I know it is, but loads of money is being spent on research and there is chemotherapy. For DMD there isn’t many options to help. My best friend has it and currently she is in hospital with something bad happening to her chest. It’s difficult
Sad to hear that. There are still many researchers working on DMD (just not as much as cancer I guess, since cancer affects more people) so I hope your friend gets better and that new treatments are developed soon! For now, the only thing we can do as non-researchers is to raise awareness of this disease.
Medicurio Thanks for your reply, all we can do is stay hopeful!
Zootier sent me, not mad at it. Good job guys.
I actually have dmd to I have muscular dystrophy