Duchenne Muscular Dystrophy and Dystrophin

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...

[@jonpaul6802]

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]

agree

[@ragingshawn6944]

I have dmd and now i even understand it more cause of this video

[@nanishah3202]

rl

[@paull2937]

Anyone watch this at school

[@tenminutetokyo2643]

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.

[@jackspiecker704]

this vid covered my entire 4 week biology unit in eight minutes

[@Bigzthegreat]

School is slow and to teach as many as possible they slow it way down

[@mazdaksheytunak6939]

What a great video! Thanks for taking the time and making the effort to explain this complex disease! Much appreciated

[@WizKidNas]

I'm a nursing student and this was excellent work, thank you for helping me better understand this content

[@mmascarenhas4368]

Thank you for the simple visuals and clear explanation! Helps those of us struggling to read through heaps of information.

[@bluedolphin4574]

Very insightful. Please keep making these awesome videos. Thank you.

[@Manunitedfna]

Great video! I loved your emphasis on what destroys the muscles. Looking forward to checking out your other videos

[@khoavu7674]

This is amazing! thank you for the elucidation

[@neoretrodude]

Incredible and so succinct. I have definitely subscribed to see what else you are hiding up your sleeve.

[@paull2937]

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.

[@pizzasloth82]

This is cool content! Keep up the good work!

[@LGRacing123]

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 ......😪😪😪😪

[@poopsixsixsix5732]

0:36 weird flex but ok

[@Undownn]

The more I watch it, the more I understand or learn something new.

[@Medicurio]

Sorry about the hiatus! Last few weeks were final exams, so I was bogged down with studying for my classes.

[@peoplecanbestupid]

You should make a reddit account and post your video in different sub-reddits. So more people can watch the videos.

[@Medicurio]

I have my own subreddit here: reddit.com/r/medicurio

[@jackiedaniels]

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?

[@kayeannbacalso2738]

thank you for sharing this knowledgeable information especially to us as a student i love this video so much

[@SiggiAriOlafsson]

My freind died because of this disease. It's hard to listen to this but its very educational and thanks for that.

[@ninjagaminglive6587]

So sorry to hear that At what age your friend died?

[@SiggiAriOlafsson]

@@ninjagaminglive6587 He was only 14 years old at the time

[@ninjagaminglive6587]

@@SiggiAriOlafsson my brother have this problem he is 21 but I don't know which type he is having

[@beebob7136]

Amazing video , really helped me a lot! Thank you.

[@Speedymisha]

One of our family friends had 3 sons with this. They died at 27, 31, and 36.

[@radhikamarathe3427]

Awesome explanation.... made my work easy... thanks

[@lorainearreglado4108]

Thank you! Nicely presented

[@Thefoxesden77]

Interesting! Thank you so much for an awesome video!

[@burakdeveli2121]

Very helpful video thank you! I've subscribed

[@vipashapmehta]

amazing video..v well explained & v good videography😊👍

[@bens10143]

incredible visuals

[@nethmawickramarachchi5056]

Thank you soo much. 🥰🥰 Nicely explained with all necessary facts.

[@ricardofr200]

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]

Contact doctor Akhigbe for your cure with his herbal medicine

[@johnnydepp4469]

Email him now

[@mohammedal-hammadi5085]

Thank you so much, it's so helpful and clear

[@gullan51]

I know someone that is 24 with DMD.. i feels so bad for these people

[@dylanzhao8441]

Awesome narration, learned a lot. :)

[@BasicallySteve23]

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]

Thanks! You're absolutely right, it is a devastating disease. I'm considering making a video just about just mutations and inheritance soon.

[@sulaimanwalugembe2567]

Thanks for the information

[@nyawirawaithaka4993]

Great video!

[@dobariyamiral2020]

Explains in very simple and easy way, like this vedieo

[@ysabellawilliams7781]

This was really helpful thank you

[@juandiegodistefano335]

Amazing video

[@chelseahoffmann6285]

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]

Many believe the lack of dystrophin in the brain is linked to duchenne patients having adhd and/or ocd

[@rachelg8097]

Very good video!

[@misswonder9691]

Amazing one thanks for the explanation ❤️❤️❤️👍👍👍🙏🙏🙏

[@sarahrose3012]

Thanks for the amazying explanation

[@selenasophie5245]

I don't know why stop making videos 💔but i hope u come back

[@neurologybysaiduzzamanmunn3349]

many many thanks. I am a doctor, still it helped me a lot.

[@raenah8882]

TZ sent me here, also as a part of the medical field.

[@engineeringlife9725]

Please tell me soluation of that diecies my saffering now he is only 4 year old

[@rikkigupta9546]

Thanks a lot 🙏 for ur guidance May god shower 😇all his blessings and love on u and u stay blessed always

[@absurd7292]

tnx man . So much Informative💖💖💖💖

[@JihadAlAnsari]

Thank you very much.

[@RublixCom]

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]

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.

[@lauramazzocchitti8509]

thank you, i've subscribed!

[@meeromeer8812]

Thanks, really nice video.

[@deemamattar517]

Man you are amazing☺️ thank you very much!!!💜💜💜💜

[@nausheensaboohi4949]

V. Good explanation.

[@craigcambridge2484]

This was brilliant !!!!!!!!!

[@jadathomas3684]

Beautiful tyy

[@ahmedsana2560]

Thank you very very much

[@carolineyoussef884]

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]

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/

[@MaramHassan17]

You're amazing. Thank youuuu!!!!!

[@ANDRESIBILIS]

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]

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.

[@jamescole8049]

Zootier sent me, not mad at it. Good job guys.

[@brunocvairo]

Awesome!

[@haninshaker8384]

Thanks 🙏

[@protistpoop]

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]

Here are two papers: www.ncbi.nlm.nih.gov/pubmed/6096040 jgp.rupress.org/content/136/1/29

[@Stevonz1234]

AMAZING keep up the good videos :)

[@Medicurio]

Thank you!

[@espinoza_9072]

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

[@jackeline155]

Thank u so much!

[@jewboi612]

This makes Ms. Bass class super easy

[@jayampriya3803]

Very useful pa .

[@writehandman2833]

Something no one has answered me about is: Can dystrophin be synthesized or harvested from healthy individuals and infused into patients?

[@dylincassidy1134]

I have a non server form of MD thats not as bad but the pain can still be awful

[@josephhicks9454]

Where are your sources?

[@103priyadharshini.m8]

Excellent 😍😍😍😍

[@dillydallydolly6847]

Question, can a patient have becker muscular dystrophy and Atherosclerosis? If so what is the chance of living a long life?

[@callumjones4622]

Very useful for my Biology Assignment :D

[@Medicurio]

Glad I can help!

[@sumamirji3956]

So awesome !!!!

[@zeinabalraea8888]

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.

[@breakfastberrito8990]

Any chance you could link to the sources for your information?

[@Medicurio]

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.

[@cariboowho]

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]

Thanks for the feedback!

[@leslycalderon6006]

Helpful indeed:)

[@tarunhuda8596]

✌️

[@mayhunt]

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.

[@user-ni8cy9tn7c]

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😢😢😢

[@mussy4everm962]

I’m confused about the caluim bit because I have this

[@user-vm8tg1zc5q]

I have Duchenne Muscular Dystrophy is there any treatment I want help please

[@torpegangofficial3736]

Hi . I am from nepal. I am suffering from Becker muscular distrophy

[@henrikl218]

Sorry to hear. Stay strong!

[@minminwu2106]

I hope you get well soon!

[@stephanmurugan3947]

Treatment please tell

[@vemanayogi]

can we take creatine supplement to make strengthen the muscles..

[@mar7956]

I like it thank you so much💗

[@Nejmaa_]

I failed on my bio test because I failed to explain how gene expression is related to DMD.

[@RPGguids]

Could you do a video on Spinal Muscular Atrophy?

[@Medicurio]

I'll look into that

[@javiercordova2108]

I thought DMD completely didn't have the presence of dystrophin, while BMD DID, but not enough?

[@mustaphahassan1873]

thanks for supplying this amazing vedio pls keepon sir .

[@ashinaz4203]

My bro also suffering from this distrophy plz pray for him

[@CrazymarioO-cf9yf]

I pray for everyone like me with this disease to get better by the power of God!!!!!

[@ninjagaminglive6587]

Bro please reply me my brother also suffering from it

[@arunsakthi834]

Can use creatine Supplement for DMD ?

[@skjani1161]

Is there any cure for this

[@chloebreagan5193]

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]

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]

Medicurio Thanks for your reply, all we can do is stay hopeful!

[@johnbeliveau]

Carrot water juice. Particular water to carrot. Grow this particular way and soak with a green hay. Net el Where did that come from?

[@huseyinarslan4051]

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?

[@ninjagaminglive6587]

Hlooo bro please reply me i want to discuss with u

[@Sam-fp8zm]

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.

[@ivangarcialoza8079]

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?

[@Medicurio]

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.

[@annaparievsky5060]

There is a mistake around 7:15. What you refer to as "exon skipping" is actually called "read through" therapy. Exon skipping involves skipping an entire exon to get the DNA back to the original reading frame. Read through involves skipping over an incorrect Stop codon which is what you're referring to and drawing here.

[@Medicurio]

What I have shown is in fact exon skipping - the "skipping over" of a segment of the exome with the early stop codon results in a truncated but functional protein (which is indicated by the "shorter" sentence analogy). Read-through therapy or nonsense mutation suppression would instead prevent the stop codon from actually stopping translation and result in a full-length functional protein. I admit it is slightly confusing because I did not animate the protein to become shorter, so apologies for that.

[@annaparievsky7417]

Medicurio Yes, that’s all correct and I agree 100%. The part I was saying is not necessarily correct is that the exon to be skipped in exon skipping does not necessarily contain a stop codon. The skipped exon is often not even the one containing the mutation. The skipping is meant to delete an exon with the intent to restore a reading frame, rather than skip a stop codon.

[@Medicurio]

Ah I see what you mean now. Yes I agree, it should be more correct if I labelled it as skipping over the exon with a mutation, not necessarily a stop codon as shown. It was just a bit easier to pictorially represent a restoration of the open reading frame in this manner, but yes the exon skipped may or may not contain the premature stop codon.

[@DMDVIBES]

I have ducchene muscular dystrophy I am 21 years old but I can walk. Sometimes falls

[@elpera8775]

Pero hay tratamiento o no joder que nos estamos muriendo ostias..