Epigenetics, Prader-Willi Sydrome, Angelman Syndrome, Methylation, Imprinting, Heterochromatin

  Рет қаралды 47,990

Stomp On Step 1

Stomp On Step 1

Күн бұрын

www.stomponstep1.com/epigeneti...
While genetics is the study of DNA sequence, Epigenetics is the study of heritable changes that do not affect the DNA sequence. Genetics determines what is transcribed, while epigenetics determines how much is transcribed. Remember that negatively charged DNA is wrapped around positively charged histone proteins like beads on a string in the nucleus. Epigenetics primarily changes how tightly the DNA is condensed. DNA that is wrapped very tightly around the histones is not actively transcribed. It is clumped up so tight that the enzymes needed for transcription don't have enough room to work. Alternatively, DNA that is loosely associated with histones is more easily accessible.
• Euchromatin -- loosely packed chromatin that is easily accessible by transcription enzymes and actively transcribed. Think People from the EU (European Union) tend to be relaxed and less uptight
• Heterochromatin -- tightly packed chromatin that is not actively transcribed (silent)
The most common type of epigenetic changes are DNA methylation, histone acetylation, and histone methylation. These changes affect the hydrophobic and/or electrical properties that control the attraction between histones and DNA.
• Histone Acetylation removes the histones positive charged decreasing its level of attraction to DNA causing uncoiling and more active transcription
• Histone or DNA Methylation -- makes histone/DNA more hydrophobic which causes it to clump up in the hydrophilic environment. Causes heterochromatin and less active transcription
Acetylation  Active
Methylation  genes are Missing
Imprinting is when one allele is naturally inactivated by epigenetic changes and only 1 allele is expressed. This type of inheritance is only present in a small number of human genes. For some of these genes the allele from the mother is expressed while the allele from the father is silenced. Other genes are the opposite. When only one allele is being expressed, a single mutation can change the phenotype of a homozygous individual.
• Prader-Willi Syndrome -- involves inheriting a mutated allele from the father while the allele inherited from the mother is naturally silenced. Causes mental retardation and Hyperphagia (excessive eating).
• Angelman Syndrome -- involves inheriting a mutated allele from the mother while the allele inherited from the father is naturally silenced. Excessive laughter, happy demeanor, seizures, and mental retardation.
Angelman Syndrome mnemonic
Angels are Mother-like and Happy
Angelman's = Maternal Mutation with Excessive Laughter
Now that you have finished this video you should check out the next video in the Genetics section which covers different types of inheritance like Autosomal Dominant, Autosomal Recessive & X-linked recessive (www.stomponstep1.com/genetic-i...)
Picture Used: "Schutzengel" by Bernhard Plockhorst available at en.wikipedia.org/wiki/File:Ber... under Public Domain
• "The basic unit of chromatin organization is the nucleosome" available at commons.wikimedia.org/wiki/Fil... by Creative Common 3.0 Attribution Share Alike

Пікірлер: 44
@almachan260
@almachan260 8 жыл бұрын
I could thank you indefinitely! you helped a lot. explained in such short time what my professor couldn't deliver in a whole time lecture.I love u!!!!
@lansvacer5181
@lansvacer5181 9 жыл бұрын
im gonna donate regardless the fact i havent seen any of your other videos just because of your efforts !
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Tomer C Thank you!
@thexthird
@thexthird 6 жыл бұрын
Thank you for the prader-willi/angelman explanation, much better than my advanced pathophysiology explanation lol
@mshare89
@mshare89 7 жыл бұрын
I remember PWS and AS based on: Angel(M)an misses Momma Prader lacks father (prader and padre) Thanks for the video!
@rocker816
@rocker816 8 жыл бұрын
Basically, you need the Dad's PWS gene (because moms is always silenced) or you will get Prader Willi. You need Mom's AS gene (because dad's is silenced) or you'll get angelman. The disomy issue seems confusing but think about it: "Uniparental Disomy" means you get both copies of that chromosome from only one parent! meaning you don't ever get the other parents non-imprinted (gene expressing) allele, thus you'll be missing a functional PWS or AS gene.
@buckshotat
@buckshotat 9 жыл бұрын
gold. good job not just reading from slidess. thank you
@stomponstep1989
@stomponstep1989 9 жыл бұрын
buckshotat Thanks!
@trolololoolable
@trolololoolable 8 жыл бұрын
Hey really appreciate this. Great vid, and really nicely explained
@stomponstep1989
@stomponstep1989 8 жыл бұрын
+trolololoolable thanks :)
@Catzz09
@Catzz09 9 жыл бұрын
Thanks for the video! High yield for sure.
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Mark Zivney Thanks for the comment and your support. Please tell your friends about Stomp On Step 1
@monaguo1161
@monaguo1161 9 жыл бұрын
Thank you, your video is really helpful
@stomponstep1989
@stomponstep1989 9 жыл бұрын
+mona GUO Thanks for the feedback!
@RidleyE
@RidleyE 8 жыл бұрын
Liked and subscribed. Thanks for doing this!
@stomponstep1989
@stomponstep1989 8 жыл бұрын
+RidleyE thanks for commenting :)
@Paritosh120
@Paritosh120 7 жыл бұрын
good work bro..
@binbinky78
@binbinky78 9 жыл бұрын
thank you! great video
@stomponstep1989
@stomponstep1989 9 жыл бұрын
binbinky78 Thanks for the comment!
@Bekah07
@Bekah07 9 жыл бұрын
This is such a great summary, thanks so much :-)
@stomponstep1989
@stomponstep1989 9 жыл бұрын
missbekah77 thank you for the kind words!
@solemar5443
@solemar5443 9 жыл бұрын
Thank you for these videos! And thank you for making them available for free! Please do keep on making more of these - we need them! I don't know if this is asking too much, but if you are looking to further improve on your already great work, you might incorporate animations of what you are describing (didactically, this would definitely make a difference).
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Lordblessme Thanks for the feedback! What type of animations did you have in mind? Right now the best I can do is arrows and circles that look like I am drawing but are really predrawn by a program called camtasia. I'd like to eventually progress to where you can see me draw things in real time but I need some more equipment, software and training for that. As far as higher quality animations, I would love to do that but I may be limited by copyrights. There are a lot of useful pictures in the public domain, but there probably aren't many relevant videos that I could use without copyright infringement
@solemar5443
@solemar5443 9 жыл бұрын
Stomp On Step 1 I didn't have any specifics in mind - just additional visual aids to what you already have (which is great, by the way). Static pictures are really useful. The only advantage of animations is being able to see a bit better how things happen. I am just thankful for your hard work! :o)
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Lordblessme Thanks. I'll keep that suggestion in mind and try to find more visuals in the future
@evangel18
@evangel18 9 жыл бұрын
you are awesome man, thanks so much. really helpfull !
@stomponstep1989
@stomponstep1989 9 жыл бұрын
wat sup Thanks!
@katonya8763
@katonya8763 9 жыл бұрын
thank you this was awesome
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Katonya 87 You are very welcome! Please tell your friends about Stomp On Step 1
@roiboi18
@roiboi18 9 жыл бұрын
keep it up man. very helpful.
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Roy Williams thank you! Please tell your friends!
@sallymahmoud-werthmann4927
@sallymahmoud-werthmann4927 9 жыл бұрын
you are amazing
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Sally Mahmoud Thanks for the feedback!
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Hi Mark C, I hope you see this message. I can't respond directly to you comment (I think that may be based on your account seetings). But to answer your question, I’m pretty sure the way it is in the video is correct. I always remember it that Prader Willi sounds like a more masculine name while Angelman sounds more feminine
@markc3185
@markc3185 9 жыл бұрын
Stomp On Step 1 Thanks for coming back to me but i ended up checking several source who all agree including Prader-Willi Sydrome Association UK and in Prader- Willi they say it is the paternal genes that are silenced and the maternal disomy expressed as i had suggested in my original comment. You can check it out here www.pwsa.co.uk/information-support-advice/about-pws/
@stomponstep1989
@stomponstep1989 9 жыл бұрын
Mark C In that source I'm seeing "If your child has a ‘deletion’ (about 70% of all cases of PWS) it means that part of the chromosome 15 inherited from the child’s father is missing." As is the case with most genetic diseases there are multiple different mutations that can lead to a similar disease presentation. However, the most common cause is what is described in the video because that is what is most likely to be covered on the USMLE exam. The maternal gene is naturally silenced in all of us through imprinting and the paternal gene has the mutation/deletion. But there certainly are other mechanisms that can cause Prader Willi
@markc3185
@markc3185 9 жыл бұрын
Stomp On Step 1 ok sweet that makes sense
@markc3185
@markc3185 9 жыл бұрын
I was wondering if you could clarify Angelman and Prader-Willi or if i am picking up your video wrong. In the video for Prader-Willi you say that the mutation is inherited from the father with silencing of the mothers allele (on chr 15) and vice versa in Angelman. However, i thought uniparental disomy of chromosome 15 from mother and silencing of the fathers alleles resulted in Prader-Willi and the opposite occured in Angelman. I had always remember Paternal was silence in Prader-Willi and Maternal in angelMann (i.e. P with P and M with M as a memory aid). Can you please clarify? sorry if i have misinterpreted the video
@ibrahimalrajeh9677
@ibrahimalrajeh9677 7 жыл бұрын
are you sure ?
@courtjones2467
@courtjones2467 6 жыл бұрын
I remember Prader-Willi is from the father because Prader makes me think of Vader. Vader was Luke's father!
@IsaakJones
@IsaakJones 9 жыл бұрын
I think the two diseases are switched around...
@Raptor9323
@Raptor9323 9 жыл бұрын
i already gave you my bandwidth :P
@stomponstep1989
@stomponstep1989 9 жыл бұрын
yoitsme jay LOL thanks!
@Raptor9323
@Raptor9323 9 жыл бұрын
i'd rather flip that thanks on you man. thanks for the video.
Prader-Willi Syndrome
15:21
MHSc Medical Genomics
Рет қаралды 872
How Many Balloons Does It Take To Fly?
00:18
MrBeast
Рет қаралды 202 МЛН
Fast and Furious: New Zealand 🚗
00:29
How Ridiculous
Рет қаралды 43 МЛН
Каха заблудился в горах
00:57
К-Media
Рет қаралды 9 МЛН
Can Your Environment Affect Your DNA? | Epigenetics Explained
9:29
Oncogenes & Tumor Suppressor Genes Bax P53 MYC Bcl-2 BRCA Trastuzumab Rb
12:53
Prader-Willi vs. Angelman Syndrome (Imprinting)
6:10
Dirty Medicine
Рет қаралды 180 М.
80 Year Olds Share Advice for Younger Self
12:22
Sprouht
Рет қаралды 1,6 МЛН
Imprinting and Uniparental Disomy for the USMLE Step 1
11:15
Physeo - USMLE Library
Рет қаралды 81 М.
Antipsychotics, Mood Stabilzers Anxiolytics
18:32
Stomp On Step 1
Рет қаралды 85 М.
Your Brain: Who's in Control? | Full Documentary | NOVA | PBS
53:33
NOVA PBS Official
Рет қаралды 3,2 МЛН
Epigenetics
8:42
Amoeba Sisters
Рет қаралды 638 М.
Trinucleotide Repeat Disorders Made Simple!
19:34
Simple Science Answers
Рет қаралды 30 М.
How Many Balloons Does It Take To Fly?
00:18
MrBeast
Рет қаралды 202 МЛН