#faulty dl
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MUKAMI HOUSEHOLD HC’S
A/n: Long time no see!! Work and life got super crazy but I’ve been indulging in Diabolik Lovers again! Alongside that! For a few months I’ve been rewriting DL (more like my own au!!) just small tweaks and adding more realistic characterizations to characters I enjoy! So I decided to make a list of my headcanons for the Mukami household + Yui (she’s my beauty)
TW: slight mention and hint at abuse, mention of sexual abuse, mention of animal death
Take all of these at face value I’ve done my research to the best of my abilities and are basing this off of the things I’ve read, played, and watched! Plus my own little personal things!
- A quieter household. Each brother seems to have their own hobbies and tends to stick to themselves. This doesn’t mean they don’t enjoy each others company, they seem like the only group to like REALLY enjoy being around each other. Brother banter and all that nonsense.
- isn’t the safest but compared to the Sakamaki household Yui is in less danger. She actually spends more time pursuing schooling and smaller hobbies here without much backlash. Yuma and her garden often and Ruki helps her study. But of course this kinda stuff is paid back in blood so, you win some loose some
- Yuma will tease all 3 brothers for their height, I believe this may be canon? But it’s really Kou he has spats with over their heights. As an idol Kou is notoriously over dramatic and borderline narcissistic (and very full of himself) so he’s kinda pissy Yuma hangs his height over his head, but it’s all in good fun! (Usually)
-Yui and Ruki don’t really get along in the beginning. Which duh, but after a long period of time Yui began to get annoyed with being bossed around? I mean I would to, so he kinda grossed her out. Too much like an Ayato Reiji mix
- it’s mentioned either that in a CD or clip from more blood (the game) that Yui housed a kitten and was healing it back to health and Ruki killed it. This also kinda solidified their relationship into not being great. Yui believes very strongly in her morals and Ruki is one to oppose them. Meaning that in her eyes he’s cruel and in his she’s weak.
- Azusa is super interested in religions. Not like in them but he thinks the rules and regulations are kinda interesting to look into, he asks Yui a lot of questions about her faith and what it means to her.
- Yuma and Yui get along the best, the brothers were once human and I feel like don’t lack empathy to the extent pure bloods do. Course they will make comments that have Yui going “???” Because they are still entitled vampires
- The kinda group to have annoying ass orders at cafes. They don’t go out as a group much but when they get the chance they do. So when Yui joined she tagged along (of course they were like helicopter parents). Kou wants something sweet all the time so it’s either a milkshake/frappe nonsense, Ruki is the one who makes in super obvious he “just wants a black coffee. Black, no sugar or cream”, now Azusa’s order isn’t hard but he’s so quiet that it’s hard to catch it all so it’s usually made wrong on accident. Yuma sticks to the same thing but it’s a coffee with like 13 different steps that by the end it’s like a concoction of sugar, cream, flavoring, and coffee.
- Yui has an easy order, usually a tea. She avoids most coffee’s due to her sleep already being out of whack
- Yui has nightmares often due to the abuse she’s faced and she’s semi opened up to Azusa abt them in passing but tends to shut it down if pried.
- Ruki is stressed almost always. With the stress of being Adam kinda solely falling on his shoulders he doesn’t sleep often or even at all.
- this is supposedly canon but, Yuma likes bigger curvy girls in my mind :3
- Kou likes Kesha, Megan, and other female rap/pop artists. I also feel like Yui also dabbles with that kinda music but it isn’t her favorite
- Yuma’s the kinda brother that gives his brothers the faulty gaming controller :/
- Yuma and Kou smoke weed 100% idk I feel like they’d enjoy it, Ruki has a few times but usually just tells them off. Azusa has zero interest, Yui also has dabbled and she enjoyed it but getting high with like supernatural creatures can be… anxiety inducing?
- Ruki seems like one of those kids who’d have a super non trad kinda pet? Idk a snake or something. Not messy, loud, and chill
- Kou seems like the type to be sex repulsed often? He’s an idol and gets sexualized a lot in the limelight so bad correlation but even if he hates it he still does it to Yui
- Yui also is very sex repulsed
- yuma has a hard time coming to terms with his past with Shuu? It’s a weird grief thingy
- I feel like sometimes, only sometimes, they miss being human. I believe it’s semi mentioned already. But I feel like when Yui started living with them they started noticing that feeling more in an angry/sad way.
#diabolik lovers#diabolik lovers fandom#diahell#dialovers#headcanons#yuma mukami#ruki mukami#kou mukami#azusa mukami#yui komori
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DL-6 changes for the AU aka: the Everybody Lives Except Yanni Yogi AU
this is a bunch of rough ideas/notes on how DL-6 plays out where both greg and miles live (and yogi is killed bc someone has to die here, sorry polly)
the lack of air is caused by a carbon monoxide leak into the elevator shaft (probably from a faulty emergency generator that switched on after the earthquake)
everything else plays out the same, except for when miles throws the gun
the gun hits the floor and fires, the path of the bullet tears open yogis throat and kills him
blood Everywhere
(further notes after cut, contains illustrated gore)
path of bullet continues through elevator door, hits mvk's shoulder
doors open, mvk picks up the gun to shoot greg
tyrell enters hallway after hearing the first gunshot, sees mvk holding a bloodied gun, facing a pool of blood from the elevator
tells him to drop the gun (he doesnt)
mvk is shot (non-fatally) by tyrell, who (reasonably) assumes he was the one who just fired the first gunshot
mvk's aim is knocked off but he still manages to fire the gun, it goes through the elevator wall near greg
mvk is arrested
...
.......
✨Corruption!!!✨
mvk somehow ends up as the prosecution for DL-6
i mean he didn't really actually kill anyone here he just got extremely close, it was probably inconclusive evidence
greg is in hospital but is charged as suspect for the murder of yogi
he wasn't shot, but being nearly strangled to death breaks a bone in his neck (hyoid bone) + recovering from severe CO poisoning
miles is also being treated for CO poisoning
ray ends up defending greg in court
worst debut trial ever
he manages to disprove greg murdered yogi, but then evidence starts pointing towards the fact that it was miles
dundunduuuuun
...and that's all the notes me and my friends came up with for the DL-6 part of the au so far thank you for reading!!!!
#christmas is in the air? wrong! carbon monoxide poisoning //#dl-6 au#if you have any ideas you want to add on feel free to reblog w them btw! //#ace attorney#ace attorney spoilers#gore#blood#cw guns#injury#gregory edgeworth#miles edgeworth#tyrell badd#manfred von karma#raymond shields#eye strain
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Kicks feet back and forth. Do you have anything to say about DL!hershel maybe🥹🥹
Giggles and kicks my feet right back. I’ll tell you about his pre-au deaths (Bronev era -> pre LS) bc I finally figured out what I want to do
As always for this au, major talks about death and suicide so pleassse proceed with caution if you’re sensitive to that
His very first death is in the attack on the Bronev family. In the first rendition, Targent goes the fuck you ill kill your family route and poof. Theo wakes up that morning with a bad headache and is totally inconsolable until the early afternoon. At which point the children hide until after Leon and Rachel are gone. They didn’t ever manage to get Theo to tell why he was so upset.
That definitely contributed to his trauma memory loss.
He doesn’t have any deaths until Akbadain, at which point it resets per floor. He dies in the spider pit and multiple times to the mummies. He’s so confused by Being Alive that mostly it doesn’t register as anything other than Oh Fuck This is Happening.
Randall falls etc etc he doesn’t die. It’s half processed by the time that he’s home, and at that point he’s pretty much catatonic. When he ends up talking with his parents about everything (including the dying) they chalk it up to a hallucination or that his memory is faulty due to trauma. RIP Hershel gets gaslit by his well meaning parents.
Fast forward to college, he doesn’t die in the attack, but pretty much immediately afterward is a huge downward spiral culminating in him attempting.
Doesn’t work (via him getting saved), and the second he’s released from the hospital he attempts again. This time he ends up dying, wakes back up in the hospital, and for the next five loops just frantically keeps trying to kill himself until he accepts that he just can’t die.
RIP Hershel you can’t rest in peace
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Picture Issue Fixed in my Fanfic
Hi all, in case you've been wondering about the image at the end of chapter two in my case fic that did not show - now I have fixed this.
Strangely, it showed on desktop-AO3 but when I checked the fic on my IPad yesterday, it did not. Now it does!
The problem has been a false ending in the URL.
For embedding pictures on AO3 you need a stable URL (via uploading the picture to DropBox in my case) and then the dl=0 ending has to be changed into raw=1 in order to have the image shown properly. I used dl=1 first which is obviously faulty.
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good heart (faulty machine of a man) - 7/30
fic summary: bucky meets someone at therapy
chapter summary: bucky steps forward
word count: 876
tags: brotp: sam x bucky (brotp used loosely), post endgame, pre tfatws, hurt/comfort, slow burn, canon divergent, canon compliant, au
warnings: panic attack mention
a/n: have fun with this lil bucky x rue moment! also, if you're feeling generous, head over to ao3 to drop a kudos or a comment...!
AO3 MASTERLIST X
October 14
Rue is hunched over a box behind the receptionist's desk, bending her knees, getting ready to lift. Without thinking, Bucky strides behind the desk and lifts it, effortlessly, for her.
“James–”
“Bucky.”
“No, James,” she hisses. He sees her trying to remain mad, despite fighting off a smile. Suddenly, her hands are over his eyes. Her fingertips are cold. “There’s confidential information there!”
He actually chuckles. “I’ll keep my eyes shut.”
“How do I know that?” she says exasperated.
“You can trust me.”
“I can trust you?” she echoes. “I trust no one!”
(He wants to tell her that’s a good instinct she has going for her there, but he holds back. What he should be telling her is he’s done a lot of missions with impaired visuals, so moving a box to the desk with closed eyes was nothing.)
“You can trust me,” he insists, making a show of screwing his eyes shut. “Guide me.”
He feels her hesitation, then her hands over his. He feels her gently steer him, her little shuffles as a careful attempt to walk backward in her platform shoes. Again, he could laugh.
When he feels the edge of the table, he sets the box down and, with hands up in surrender, he backs away, eyes still closed. She guides him back around the desk.
(This time, her hands are more confidently on his waist.)
“This,” she gestures to the area around her, “is off limits. Don’t come behind the desk.” She peers over at the closed office doors.
“You could say thank you.” The cheeky retort is out of his mouth before he can stop it.
“What I could do is lose my job due to HIPAA violations!” He doesn’t know what that means, but he sees her battle panic and amusement. “So, thank you, Mr. Super Soldier Man, but I’d be more thankful if you didn’t get my ass fired.”
(She’s funny.)
“They won’t fire you,” he says. She raised a brow. “You’re the best receptionist here.”
“Are you flirting me, James?” she says distractedly, pulling a file from the box and perusing it.
“Oh, am I ‘James’ now?”
“For the foreseeable future.” She looks at him through her lashes, a playful scorn.
(He sees her flush, but she’s being bold. They both are.)
“Raynor mentioned it,” he admits, pushing his hair out of his face. “That time, last week, when she asked you to do a list of things in the middle of my session, and you’d said you already did them.”
(But, he thinks, to answer your question - yes, I am flirting with you.)
////
One of Sam’s texts is a location. He sends Bucky activities to do, things to check out, despite living in Washington D.C.
There’s an old school boxing gym in Bushwick that’ll keep your membership on the DL.
(Bucky has to Google what ‘on the DL’ means.)
Tell them I sent you, they’ll take care of you.
Bucky finds himself in the neighborhood one Tuesday, twenty minutes after the gym has closed, but he sees the lights still on. He knocks, cupping his hands to the glass to see inside. An older man, probably in his sixties, comes to the door with a broom.
“We’re closed,” he starts, but Bucky holds his empty hands up.
“Sam Wilson told me to come,” Bucky rushes. “He told me you’d be willing to let me work out here. I’m James – uh, Bucky Barnes.”
“He said you might stop by.” The man gives him a sly smile, like he knows something about Bucky, but Bucky assumes Sam talked about him.
“I’d appreciate it if you didn’t tell him he was right,” Bucky jokes.
The man grins, taking Bucky’s outstretched prosthetic hand. “I’m George. Welcome to Fogwell’s Gym.”
George lends him a pair of boxing gloves and some tape. He tells Bucky, tonight, he’ll stay for an hour, but eventually, he doesn’t mind cutting him a key. He mentions that ‘his friend’ used to work out here from time to time, too.
(He also gives Bucky his condolences.)
When Bucky tells him he can’t really pay for a membership right now, George claps a hand on his shoulder, gripping at the metal.
“Son, I’d be damned if I let a hero pay me a dime.”
(Bucky remembers these words for years to come.)
Bucky tries the boxing gloves, his muscle memory stronger than his actual memory. Images of him sparring with his dad and teaching his sister a few moves flicker in and out as he uses his teeth to tighten the laces. The glove feels uncomfortable over his prosthetic, but he gives the sandbag a few good natured jabs.
Eventually, he just wraps his right hand in tape and lays into the bag. He hears the support beams strain from his blows, but he’s possessed by something deep. Punch after punch, he feels the tightness in his chest build until he realizes he’s been holding his breath. When George goes to tell him time’s up, he finds Bucky on the ground, gasping for air.
George asks, “Are you okay, son?” and Bucky laughs in wheezes.
(For once, he’s winded because he’s out of shape and not because of a panic attack.)
#bucky barnes#winter soldier#female reader#female oc#ofc#bucky x oc#bucky x ofc#bucky x reader#bucky barnes x reader#bucky x female reader#bucky barnes x female reader#bucky x woc!reader#bucky barnes x woc!reader#bucky barnes fanfiction#bucky angst#bucky fic#bucky barnes au#marvel fanfiction#marvel au#marvel#mcu#post endgame#pre tfatws#hurt/comfort#whump#fanfiction#slow burn#good heart (faulty machine of a man)#fmoam#fmoam new chapter post
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Another day, another follow up to my "data migration is a nightmare" saga.
TOO close, I feel. TOO close to either keep going and complete at least a 80% of what I have left to move (which might be basically leaving video and audio files at last because they, esp. videos, are TOO BIG) or maybe giving up. Realistically I knew that I wouldn't finish yesterday. It's too much. It's too much of a headache to split and decide what I should move first. Idealistically, using one of the 64 GBs and filling it up to 20 GB or smth wouldn't be THAT much of an issue... except that my laptop begs to differ.
While I'm making use of going around g00gle drive to upload and dl the things there (while compressed, and easier to move around, and it gives me the advantage to not move THAT many files), let's say that I have increasingly becoming paranoid, if that wasn't clear from before. Distrust issues increase because I have had unbelievable bad luck with computers in the past, lol. If it isn't about the compressed files (through .rar, which I know they are at least a bit safer than .zip... and tbh! I have had -dl'ed- compressed files from almost 10 years ago that I haven't uncompressed that seem to still work as new and fine???), it should be about the way I'm using gdrive... or that if I don't turn the laptop on... what are the chances it will turn on again later on? Stuff like that. It's risky if I let this opportunity pass away. YET, I don't want to be doing this anymore OTL.
I also don't want to uncompress those, lmao (also, the space they occupy :))) ). I DO want to know what they are though, because... let's say that my W10 OS didn't let me see through .mp4 files' thumbnails for some reason? However... maybe later on when I decide to actually organize them so much better.
I had to go back and organize my older files if only a bit to make this possible, which, again, wasting my time in doing it as such, but it's the best way to organize and split them in order to transfer them all (while also realizing that I don't want to keep some things; some of which I will not copy, while others are much a matter of "when" since I have to look at them deeply with more time). But, it's too tiring ;A;
My USB drives situation: I'm now 95% sure that the first 64 GB USB I used is the only one that has the bug thing or whatever that the W11 laptop "double" recognize it. I haven't run with similar problems with the other newer two. Regardless, I'm not going to use it for the time being :/ Kind of sad, because it was particularly useful when I had to transfer the first PC (2017) backup last year... well, it's not like it's horrendously buggy and such... but it's slightly faulty. I understand that things like that tend to happen (I don't remember if I told it here, but I have an USB that, for some reason I don't seem to understand? unless it was because I used it in my brother's older laptop back in the day? it ended up corrupting a small percentage of my files there :), luckily I recovered them, but somehow? it is still eating away the data that is still stored there).
Speaking about paranoia, my cat :). She usually likes to sleep above my desk, but since she moves a lot and is a little bit big, she tends to push my stuff away to the ground. I slept and she pushing my things off the desk woke me up and it turned to be the USBs I am not using right now (but would probably use them as last resort). Logically, I know that these might not break... but... when I'm in this desperate state it's like "pls no".
And speaking about sleeping :))). I want to sleep as normal as possible, but this is draining a lot of my energy :))). I want to go back to my "normalcy" I'm tired.
I know I'm slightly close to the finish line... but man, why it had to be this way... I don't want to dump everything here either 😭😭😭😭😭
One thing I forgot to mention is that, an IRL acquaintance was offering me to give me their external disk because for some reason they didn't seem to boot it up in their Mac, and basically was planning to "get rid of it" because of that. They told me it's a Toshiba and I was/have been considering it (although it REALLY looks like they aren't tech savvy about stuff like that; apparently, certain external disks' brands you HAVE to format them because they are not universally compatible with Windows AND Mac, and Toshiba is certainly one of these... 😑), but I'm also the kind of person that doesn't tend to accept stuff like that so freely ,_, It's been two months, so I dunno. I have to see them again asap, however.
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Where do I find quality used car parts in Auckland?
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This amuses me a little, but I somehow managed to be a "bigger" author in a fandom by writing a lot of gen that people found and went ham over. I'd post and not participate otherwise in fandom until very recently, and even then it's more as a lurker on discord.
BUT I also have quite a bit of the "bad ship" and other themes people in this particular fandom tend to say is too "dark/etc"..... (which is rhetoric I tend to roll my eyes at and avoid, but whatever) scattered on my profile, and there's been multiple times now where someone will find that, and comment about it in a genuinely shocked way that I can write things that are gen.... then also write things that are, in their eyes, "too dark". It's particularly funny as most of my fics (even ones that are gen) have the same themes and undertones regardless of ship/rating/etc, but because there's no "bad ship" people don't seem to clue in, OR they comment about thinking I handled it with nuance, and seem honestly shocked that they can enjoy themes they've passed off as "bad" before reading it.
Essentially, I've avoided any drama about this by being very nice in replies to the comments in a "don't like don't read / I get if you don't like something, feel free to read my other fics / I wanted to explore this, but I get it's not for everyone", and avoiding most of the fandom in general. Pushing the DL;DR thing, even though these people tend to think this content shouldn't exist at all.... unless I write it, in some cases??
I've seen a couple of posts here on tumblr, and in discord conversations, saying "this ship/trope is bad, but I liked how X wrote it because..." which is an issue in and of itself, but it's amusing to me that if people give something a chance they may realise it's not all bad. I've somehow become a "gateway" person to a ship some fairly vocal people have derided as being bad, and a couple of them have come out going well, actually, maybe it's not bad.
I am looking forwards to some people finding my fics in other fandoms though haha, which make everything I've written for this one looks like pure fluff.
--
"It's fine if you're my friend" is all too common.
It comes from them imagining that Bad Fic comes from Bad People but if they've already classified you as Good People, that overrides it in your case... without making them reevaluate their faulty starting premise.
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In other words, They used a faulty test the whole time! PCR test was the Gold standard. Sound more like RUST!
https://www.cdc.gov/csels/dls/locs/2021/07-21-2021-lab-alert-Changes_CDC_RT-PCR_SARS-CoV-2_Testing_1.html
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do u have a link to download ae :(
Unfortunately, AE is the one thing I do pay for, since I need it for school ;;I’m sorry anon!!
#replies#i used to have a link#but it was for CS6#and it didnt work very well??#so even if i can find that DL#i dont want to give you faulty software TToTT
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So....uh...What was Ms. True ("Molly) and Maladie's (Sara) relationship like in the sanitarium?
Ooooooh okay so the short answer that you’re probably looking for is yes, I do think there’s gay subtext there. I don’t think they were ever involved, but it seems like they were very close and probably shared a lot of secrets between them.
But since I can never just give short answers, I’ll also say that I’m very conflicted about whether or not they actually were in the asylum together.
Based solely on episode 2, I thought they’d known each other beforehand. Maladie’s been active for several months as of the beginning of the show and references being tortured in the asylum for two years because of Amalia, so it seems like Amalia was responsible for her being committed in the first place three years ago, in the scene we see in episode 1. And I’d thought that act of betrayal was what drove Amalia to try and drown herself. Obviously for that, all of their history had to have taken place beforehand.
But now that we know Amalia was declared insane for being Touched and likely also spent time in an asylum, there’s this other possible version of events where that’s where they met. And most of the clues we have about their history work either way:
Faulty memories. I’d bet anything that their similar memory issues are a result of shock therapy, although I suppose, knowing Amalia, it could just be regular old brain trauma from getting into too many fights. Still, this could really fit with either version of their story; it just confirms that Amalia probably was an asylum and explains how she didn’t know/remember Maladie was Touched.
The timeline. If they met in the asylum three years ago, then whatever bond they had was formed fast. Which, in a place like that, isn’t unrealistic. They would have turned to each other for comfort and solidarity in their fear, especially once they realized they were both Touched and had both been abused before (going off of what Amalia says about Maladie being abused as a child and what Mundi comments about Amalia’s husband in response). Also, the Orphanage seems like it’s been established for a while, so Amalia’s time in the asylum must have been much briefer than Maladie’s. So on this point, the theory of them being in the asylum together doesn’t fit as well imo as them knowing each other beforehand does, but it’s still plausible.
Amalia’s betrayal. So if everything happened before they became Touched, things seem straightforward: Amalia’s betrayal was something that led to Maladie being committed. But if they were already in the asylum when they met, then how did Amalia betray her? Maladie alludes to Amalia betraying her in exchange for something, so it would actually make more sense if they were in the asylum and Amalia “fed” Maladie to the doctors in exchange for her own freedom, but that raises a lot of questions as to why and how such a deal was made, and would Amalia really say she “had no choice” if all it boiled down to was self-preservation? I mean possibly, considering she seems to have a lot of self-hatred and guilt about doing it.
Lack of recognition. Memory issues and whatever physical trauma Maladie’s been through aside, the fact that Amalia didn’t recognize Maladie still becomes more plausible the more time has passed since she saw her. Except if whatever they went through in the asylum has to do with both Amalia not recognizing her and why Maladie describes her as the “woman who sheds her skin.” It’s dark and a bit out there but like, can’t rule out the possibility that they had something done to them that literally changed their appearances.
So there you have it! All in all, I still lean towards their history happening prior to becoming Touched, but these are all the points I can think of for figuring it out. Anyway, the next episode premieres in literally 10 minutes, so we’ll see how fast I get contradicted!
TL;DL at this point, most of what we know about their history is vague enough that either interpretation could work.
Sorry for getting so off-topic XD
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So I just realized something very interesting about Ace Attorney and the DL-6 incident. No matter how it happened, even if it was Miles Edgeworth throwing the gun that killed his dad, the person at fault would always end up being Yanni Yogi.
Guns just dont go off randomly when thrown. Modern guns have a safety switch that prevent it from going off even if you pull the trigger. And even with the safety off, just dropping it cant fire a bullet. Usually if this does happen, it's because the gun is faulty or the internal mechanisms are worn out.
So the only reason why the gun could have gone off by being thrown to the ground is if the safety was off and it was loaded. And since it is assumed that the gun was Yogi's, then he was likely the one to leave the gun like that.
So yeah, it's still Yanni Yogi's fault.
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Causes
Genetics of FH
HeFH occurs when a child inherits a nonfunctional copy of one of their FH genes (LDLR, APOB, PCSK9) from an affected parent and a functional copy from their unaffected parent. Each egg or sperm they produce has a 50% chance of getting the nonfunctional copy (passing down FH) and a 50% chance of getting the functional copy, Therefore, the risk of passing the FH from the affected parent to a child is 50% in each pregnancy. New, spontaneous variants appear to be very rare.
Most individuals with HoFH have inherited one mutated gene from each parent, such that each parent has HeFH. These parents have a 25% risk in each pregnancy to have a child with HoFH, a 50% chance of having a child with HeFH, and a 25% chance that the child will inherit a normal gene from each parent. The risk is the same for males and females.
When one parent has HeFH and the other has HoFH, there is a 50% chance with each pregnancy to have a child with HeFH and a 50% chance to have a child with HoFH.
When one parent has HoFH and the other has two normal genes, all children will have HeFH.
When both parents have HoFH, all children will have HoFH.
In FH there is a “dose effect” so that HoFH is more severe than HeFH.
Variation by gene
Of patients with identifiable pathogenic gene variants, a LDLR gene variant is the most common cause of HeFH, accounting for ~90% of pathogenic variants. Since the original pathogenic variant discovered by Goldstein and Brown, over 2500 other variants in the same gene have been identified. An adequate number of functioning LDL receptors are needed to remove cholesterol from the bloodstream.
A pathogenic variant in the APOB gene is responsible for ~10% of FH cases; this variation is seen most commonly in those of European Caucasian ancestry. It is also associated with lower baseline LDL-C levels compared to most cases of FH, closer to 160 mg/dl. Apolipoprotein B-100 is a protein that binds to LDL receptors, which enables uptake of lipoproteins by the liver and reduces the cholesterol level in the blood. Pathogenic variants in the APOB gene lead to faulty uptake and increased cholesterol level.
PCSK9 gene variants are responsible for only a small percentage of FH cases. The normal PCSK9 gene codes for an enzyme that breaks down the cholesterol receptors after they have done their job. Unlike most pathogenic variants which cause a loss of function of the affected gene, PCSK9 pathogenic variants actually increase the gene’s function. This gain in function in PCSK9 leads to excess degradation of LDL receptors and thus an increase in the LDL-C levels.
Recent research suggests individuals with FH that have variants in different genes (LDLR, APOB, PCSK9) or of different types of DNA changes may have different individual risks. However, there is wide enough variation even among those data sets and it can be difficult to provide personalized risk information by one’s genotype.
Polygenic inheritance
FH due to a change in LDLR, APOB or PCSK9 is referred to as a monogenic disease, where a change in any one of those genes is sufficient to cause disease. In contrast, there is growing evidence to show that some individuals with a clinical FH presentation (defined by any of the standard diagnostic criteria signs and symptoms) actually have a polygenic predisposition to hyperlipidemia as an alternative genetic cause to their disease. Polygenic disease is due to changes in many genes, often broadly related to cholesterol metabolism. The contribution of any single genetic change is very small and it takes the combination of these many, changed genes to get significantly elevated LDL-C. Polygenic hyperlipidemia can present as severe as FH, but can often also present milder or more variable than monogenic FH because the number of changes inherited by any one family member is always different. Polygenic hyperlipidemia is described in more detail in the “Related Disorders” section.
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GUYS! the dl for today’s treat decided not to work with us all, so i had to reupload the treat until it worked lol.
sadly, updating the dl link means editing the privated post-- and that changes the url of said post. i didn’t see that coming as istg all dl links worked beforehand.
i’m gonna answer the rest of my asks with an updated link, ofc, and for everyone who’ve got a faulty link - please shoot me another ask, so i can resend the gift to ya.
stay spooky! also, if i don’t reply quickly, it’s simply because i temporarily can’t, but i will get to everyone asap, don’t u ever worry xx
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