Duchenne Muscular Dystrophy and Dystrophin
Ғылым және технология
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.cureduchenne.org/
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...
Пікірлер: 204
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.
@megarayquaza6157
6 жыл бұрын
agree
@ragingshawn6944
4 жыл бұрын
I have dmd and now i even understand it more cause of this video
@nanishah3202
3 жыл бұрын
rl
@paull2937
2 жыл бұрын
Anyone watch this at school
@tenminutetokyo2643
2 жыл бұрын
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.
this vid covered my entire 4 week biology unit in eight minutes
@Bigzthegreat
3 жыл бұрын
School is slow and to teach as many as possible they slow it way down
What a great video! Thanks for taking the time and making the effort to explain this complex disease! Much appreciated
I'm a nursing student and this was excellent work, thank you for helping me better understand this content
Thank you for the simple visuals and clear explanation! Helps those of us struggling to read through heaps of information.
Very insightful. Please keep making these awesome videos. Thank you.
This is amazing! thank you for the elucidation
Great video! I loved your emphasis on what destroys the muscles. Looking forward to checking out your other videos
Sorry about the hiatus! Last few weeks were final exams, so I was bogged down with studying for my classes.
@peoplecanbestupid
7 жыл бұрын
You should make a reddit account and post your video in different sub-reddits. So more people can watch the videos.
@Medicurio
7 жыл бұрын
I have my own subreddit here: reddit.com/r/medicurio
@jackiedaniels
3 жыл бұрын
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?
This is cool content! Keep up the good work!
Incredible and so succinct. I have definitely subscribed to see what else you are hiding up your sleeve.
thank you for sharing this knowledgeable information especially to us as a student i love this video so much
Amazing video , really helped me a lot! Thank you.
Awesome explanation.... made my work easy... thanks
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.
Thank you! Nicely presented
The more I watch it, the more I understand or learn something new.
Thank you so much, it's so helpful and clear
Interesting! Thank you so much for an awesome video!
Thank you soo much. 🥰🥰 Nicely explained with all necessary facts.
Thanks for the information
incredible visuals
Awesome narration, learned a lot. :)
This was really helpful thank you
Very helpful video thank you! I've subscribed
Explains in very simple and easy way, like this vedieo
Thanks for the amazying explanation
Great video!
amazing video..v well explained & v good videography😊👍
Amazing video
Thank you very much.
Thanks a lot 🙏 for ur guidance May god shower 😇all his blessings and love on u and u stay blessed always
0:36 weird flex but ok
You're amazing. Thank youuuu!!!!!
many many thanks. I am a doctor, still it helped me a lot.
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 ......😪😪😪😪
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.
@johnnydepp4469
2 жыл бұрын
Contact doctor Akhigbe for your cure with his herbal medicine
@johnnydepp4469
2 жыл бұрын
Email him now
V. Good explanation.
Very good video!
Thank you very very much
Amazing one thanks for the explanation ❤️❤️❤️👍👍👍🙏🙏🙏
Thanks, really nice video.
Beautiful tyy
Thank u so much!
tnx man . So much Informative💖💖💖💖
Thanks 🙏
My freind died because of this disease. It's hard to listen to this but its very educational and thanks for that.
@ninjagaminglive6587
2 жыл бұрын
So sorry to hear that At what age your friend died?
@SiggiAriOlafsson
2 жыл бұрын
@@ninjagaminglive6587 He was only 14 years old at the time
@ninjagaminglive6587
2 жыл бұрын
@@SiggiAriOlafsson my brother have this problem he is 21 but I don't know which type he is having
Man you are amazing☺️ thank you very much!!!💜💜💜💜
thank you, i've subscribed!
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.
@Medicurio
7 жыл бұрын
Thanks! You're absolutely right, it is a devastating disease. I'm considering making a video just about just mutations and inheritance soon.
I know someone that is 24 with DMD.. i feels so bad for these people
One of our family friends had 3 sons with this. They died at 27, 31, and 36.
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.
@cdeese2644
3 жыл бұрын
Many believe the lack of dystrophin in the brain is linked to duchenne patients having adhd and/or ocd
This was brilliant !!!!!!!!!
Awesome!
Very useful pa .
TZ sent me here, also as a part of the medical field.
@engineeringlife9725
5 жыл бұрын
Please tell me soluation of that diecies my saffering now he is only 4 year old
AMAZING keep up the good videos :)
@Medicurio
7 жыл бұрын
Thank you!
I don't know why stop making videos 💔but i hope u come back
Zootier sent me, not mad at it. Good job guys.
So awesome !!!!
This makes Ms. Bass class super easy
I have a non server form of MD thats not as bad but the pain can still be awful
Very useful for my Biology Assignment :D
@Medicurio
7 жыл бұрын
Glad I can help!
Helpful indeed:)
@tarunhuda8596
3 жыл бұрын
✌️
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
I like it thank you so much💗
Excellent 😍😍😍😍
Good video! I felt that the end of the video got a little off-track with the discussion of genes, but keep up the good work!
@Medicurio
7 жыл бұрын
Thanks for the feedback!
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?
@samirasalik6118
2 жыл бұрын
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.
Where are your sources?
I’m confused about the caluim bit because I have this
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
@Medicurio
6 жыл бұрын
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.
Something no one has answered me about is: Can dystrophin be synthesized or harvested from healthy individuals and infused into patients?
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!
@Medicurio
6 жыл бұрын
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/
thanks for supplying this amazing vedio pls keepon sir .
My bro also suffering from this distrophy plz pray for him
@CrazymarioO-cf9yf
3 жыл бұрын
I pray for everyone like me with this disease to get better by the power of God!!!!!
@ninjagaminglive6587
2 жыл бұрын
Bro please reply me my brother also suffering from it
Hi . I am from nepal. I am suffering from Becker muscular distrophy
@henrikl218
5 жыл бұрын
Sorry to hear. Stay strong!
@minminwu2106
3 жыл бұрын
I hope you get well soon!
@stephanmurugan3947
3 жыл бұрын
Treatment please tell
Do you happen to have any links, I can't seem to find any relating to how calcium protease and muscular dystrophy actually relate...
@Medicurio
7 жыл бұрын
Here are two papers: www.ncbi.nlm.nih.gov/pubmed/6096040 jgp.rupress.org/content/136/1/29
Question, can a patient have becker muscular dystrophy and Atherosclerosis? If so what is the chance of living a long life?
Could you do a video on Spinal Muscular Atrophy?
@Medicurio
6 жыл бұрын
I'll look into that
I failed on my bio test because I failed to explain how gene expression is related to DMD.
Carrot water juice. Particular water to carrot. Grow this particular way and soak with a green hay. Net el Where did that come from?
Any chance you could link to the sources for your information?
@Medicurio
4 жыл бұрын
These are some of the main ones. Please comment if you are looking for a specific reference to a particular piece of info in the video. 1. Rubin, M. Duchenne muscular dystrophy and Becker muscular dystrophy. Merck Manual, 2016. 2. Acsadi, G. Duchenne muscular dystrophy. National Organization for Rare Disorders, 2016. 3. Foster K, Foster H, Dickson JG. Gene therapy progress and prospects: Duchenne muscular dystrophy. Gene Ther. 2006;13:1677-85. 4. Nowak KJ, Davies KE. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep. 2004;5(9):872‐876.
I have ducchene muscular dystrophy I am 21 years old but I can walk. Sometimes falls
I suffer limb girdle muscular Dystrophy
I have Duchenne Muscular Dystrophy is there any treatment I want help please
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😢😢😢
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
@Medicurio
6 жыл бұрын
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.
@chloebreagan5193
6 жыл бұрын
Medicurio Thanks for your reply, all we can do is stay hopeful!
can we take creatine supplement to make strengthen the muscles..
I thought DMD completely didn't have the presence of dystrophin, while BMD DID, but not enough?
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.
6:57 for personal study (gene therapy)
I have two brothers who got this a 14 year old and a 7 year old
فقط ربي المشافي
Is there any cure for this
6.50 The fat cat ate the big rat and the red ham ahahahha
Can use creatine Supplement for DMD ?
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.