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Genes Involved In Acne

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#1 alternativista

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Posted 19 June 2011 - 10:53 AM

While I have not seen the studies that found that the tendency towards hyperkeratinization is genetic, absolutely everything you find about hyperkeratinization and any condition that involves hyperkeratinization in the skin or elsewhere states that the tendency is genetic. It seems to be a given accepted by every researcher doing any research on any condition involving hyperkeratinization.

And here's a patent request involving an enzyme encoded by gene UGCG that is involved in keratinocyte differentiation. They want to use it as a treatment for acne and any other condition that involves hyperkeratinization:

http://www.freshpate...20100028878.php

More info on UGCG: http://en.wikipedia.org/wiki/UGCG

And here: http://www.genecards...sp.pl?gene=UGCG Where it includes a chart with its genomic location.

And under Epigenetics it says:
'QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for UGCG'

I, of course, have no idea what that means, but epigenitics are things that we change in our life time due to environment and the things we do to ourselves that become part of our genetic makeup and can get passed down to our kids. And it seems they've identified something.

Good Things for Hyperkeratinization:
http://www.acne.org/...p...t&p=2580171

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Also, there's at least 3 genes/enzyme mutations identified as being involved in the linoleic acid deficiency found in mammalian skin prone to skin irritations of all sorts. http://www.acne.org/...pical-solution/

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-Acne prone skin has found to be deficient in retinoids, possible due to mutations in CYP26AI gene that causes it to be metabolized too fast to be used.

Polymorphisms in the human cytochrome P-450 1A1 gene (CYP1A1) as a factor for developing acne.
Paraskevaidis A, Drakoulis N, Roots I, Orfanos CE, Zouboulis CC.
Department of Dermatology, University Medical Center Benjamin Franklin, Free University of Berlin, Germany.

Cytochromes P-450 are a supergene family of enzymes involved in the metabolism of a wide range of endogenous and foreign compounds. The existing genetic variations of the distinct isozymes lead to interindividually different metabolic capacity. Since vitamin A, endogenous retinoids and their natural metabolites are morphogenic for the sebaceous gland, we investigated the polymorphisms of cytochrome P-450 1A1, as being one of the most active isozymes involved in their interconversion. From the known mutations, two were investigated; an additional cleavage site for MspI in the 3'-flanking region identified as a thymine-to-cytosine transition 1,194 bp downstream of exon 7 (m1) and an adenine-to-guanine transition at position 4889 in exon 7 (m2). We studied 96 acne patients for m1 and m2 mutations by restriction fragment length polymorphism and allele-specific polymerase chain reaction, respectively, and compared the results with 408 reference individuals. No statistically significant difference was found in the distribution of m2 alleles; the frequency was 3.13 and 3.06% of the alleles, respectively (odds ratio = 1.02, confidence limits 0.41-2.52, p = 0.96). In contrast,a trend to an overrepresentation of m1 alleles in acne patients was observed; allele frequency was 8.33 in the patients and 6.99% in the control subjects, respectively (odds ratio 1.21, 95% confidence limits 0.68-2.16, p = 0.52). As the m1 mutation might define a marker for alterations on regulatory sites, the biological efficacy of natural retinoids could be greatly impaired by their rapid metabolism to inactive compounds. The resulting deficit of active natural retinoids may lead to abnormal sebocyte differentiation and hyperkeratinization of the follicular canal implicating the development of acne in some patients.

http://www.ncbi.nlm....st_uids=9557256

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Also, according to this article, the genome of p acnes has been mapped. or at least that of P. acnes strain KPA171202 http://www.acne.org/...#entry3257204.. 
 
This study on the genetics of P acnes finds that there we might have a subspecies of the bacteria that causes acne as opposed to the bacteria present in normal skin:
 

Population genetic analysis of Propionibacterium acnes identifies a subpopulation and epidemic clones associated with acne.

The involvement of Propionibacterium acnes in the pathogenesis of acne is controversial, mainly owing to its dominance as an inhabitant of healthy skin. This study tested the hypothesis that specific evolutionary lineages of the species are associated with acne while others are compatible with health. Phylogenetic reconstruction based on nine housekeeping genes was performed on 210 isolates of P. acnes from well-characterized patients with acne, various opportunistic infections, and from healthy carriers. Although evidence of recombination was observed, the results showed a basically clonal population structure correlated with allelic variation in the virulence genes tlyand camp5, with pulsed field gel electrophoresis (PFGE)- and biotype, and with expressed putative virulence factors. An unexpected geographically and temporal widespread dissemination of some clones was demonstrated. The population comprised three major divisions, one of which, including an epidemic clone, was strongly associated with moderate to severe acne while others were associated with health and opportunistic infections. This dichotomy correlated with previously observed differences in in vitro inflammation-inducing properties. Comparison of five genomes representing acne- and health-associated clones revealed multiple both cluster- and strain-specific genes that suggest major differences in ecological preferences and redefines the spectrum of disease-associated virulence factors. The results of the study indicate that particular clones of P. acnes play an etiologic role in acne while others are associated with health.

Full article: http://www.ncbi.nlm....82/?tool=pubmed

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And that's just a few. See also this thread:
http://www.acne.org/...is-information/
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Edited by alternativista, 08 January 2014 - 03:41 PM.


#2 epicdermis

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Posted 20 June 2011 - 11:00 PM

I didn't have time to read the entire description, but this is very interesting. Any idea what happened with that patent request?

#3 alternativista

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Posted 21 June 2011 - 09:14 AM

QUOTE (epicdermis @ Jun 20 2011, 11:00 PM) <{POST_SNAPBACK}>
I didn't have time to read the entire description, but this is very interesting. Any idea what happened with that patent request?



No. I control my acne with diet, so don't plan to follow up on this. I was just looking for info on the fact that hyperkeritinization was genetically influenced and one of the main differences between 'us' and 'them.' So I have more to tell people who ask why their friends can eat like crap, stay up all night and are inactive and yet have clear skin.

#4 Frida.k

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Posted 21 June 2011 - 06:54 PM

Alternativista, you are a credit to these boards. eusa_clap.gif

#5 chunkylard

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Posted 27 June 2011 - 10:17 AM

How are they aiming to introduce the enzyme into subjects? Most enzymes would get broken down in the stomach and be rendered useless, or at the very least somewhat ineffective. Some sort of enteric coating would probably have to be used to actually utilize this during digestion. Maybe an IV route would be more effective, granted it's slightly more drastic.

If genetics play a role in this enzyme's expression and there are people out there who for whatever reason produce less of it or none at all, it would still have to be supplemented continually.

Pretty interesting though. It's good to know that science is finally getting away from the whole bacteria = acne thing and moving onto the root causes.

#6 mystril

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Posted 20 February 2012 - 02:08 PM

true. whichever active enzymes inside any stuffs could potentially rendered inactive or destroyed with Stomach Acids.


Diet --> Supplements

I have heave loads of supplements and I am starting to take them every 2 days. Too many Vitamins & Supplements to eat. But I felt my body didn't need the daily dose so I went every 2-3 days. Doing fine and Acne is getting better (though not correlated)

I almost ordered Saw Pal @ iherb but looking at my Liver Detoxifier Supplements etc, I doubt it's going to be consistent.

HyperKer + Oily Skin + Poor Diet = Epic Failure

That's what happened to me and I regretted not knowing earlier.

Now I suffer HyperKer + Oily Skin (both Genetics probably) and..
1) Occassion Pimples. Which is a huge improvement.
2) Managable Oily Skin. Using Sulfur soap to get rid of excessive dead skin.

But if HyperKer can be solved or mitigated (at best), I would be wonderful to just deal with Oily SKin alone..

#7 alternativista

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Posted 23 March 2012 - 09:16 AM

^It can with diet and nutrients.

#8 DaftFrost

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Posted 23 March 2012 - 08:38 PM

It's just like aging.

When you get older not everyone dies from Heart Failure, but old people just have more risk and potention but they can still control that by eating healhty and having a better life style which would extend their life a lot.

Same with puberty, not everyone gets them but everyone has high potentional of getting one. You control that with your diet and lifestyle. Simple... naturally animals and cavemens would never get acne I think since they are just soo all Natural!

#9 radikal

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Posted 25 March 2012 - 10:13 AM

@DaftFrost: I've been stricly controlling my diet and lifestyle for the last 12 years. It makes little to no difference. The seasons make more diference than diet (winter worse than summer).
One would think people would refrain from...whatever...in a thread which begins with the word "Genes"; but no (sigh). I opened the thread expecting to see commentary on loci in chromosomes 9 or 12, it's the "Research" forum after all....

Edited by radikal, 26 March 2012 - 12:16 PM.


#10 DaftFrost

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Posted 26 March 2012 - 12:01 PM

@DaftFrost: I've been stricly controlling my diet and lifestyle for the last 12 years. It makes little to no difference. The seasons make more diference than diet (winter worse than summer).
One would think people would refrain from...whatever...in a thread which begins with the word "Genes"; but no (sigh). I opened the thread expecting to see commentary on loci in chromosomes 9 or 12, it's the "Research" forum after all....

The fuck you know about what cavemen did or did not get. I would travel back in time 20,000 years or whatever and kill the motherfucker who first had the mutation, even as the paradox would get me and release us to our maker...


Havve you tried eating nothing at all? Except water, and perhaps an apple something simple that no one has tolerance to?
Try that for 2 weeks then see the results.

Cuz the entire time you might even just be tolerant to fructose, or maybe you are extremely sensitive to iodine.
Sure I don't know about cavemens, but I am sure that they had very simple diets like any other animals. If we compare our genes to monkeys, there very very very slight difference. Over 90% is the same. There aren't many animals that gets acne, even if they do, its probably because they are more sensitive/allergic to the current lifestyle we have now. Pollution, processed foods..... It's mental and physical at the same time.

#11 radikal

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Posted 26 March 2012 - 12:18 PM

@MODERATORS: Since I get the feeling I'm being trolled by a grammar challenged, underage kid, I'm not adressing the poster upstream.

I would like to repeat an older request that there should be a "barrier of entry" of some sort - at least for the Research forum; I don't expect scientists to follow this board, however having an open house policy lowers its usefulness to about nil.

#12 tritonxiv

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Posted 26 March 2012 - 02:39 PM

@MODERATORS: Since I get the feeling I'm being trolled by a grammar challenged, underage kid, I'm not adressing the poster upstream.

I would like to repeat an older request that there should be a "barrier of entry" of some sort - at least for the Research forum; I don't expect scientists to follow this board, however having an open house policy lowers its usefulness to about nil.


While I agree with the sentiment...

The usefulness is (presumably) in the original post. No one is forcing you to read or agree with the comments that follow. People have a right to voice their opinions and you have a right to reject them. But censorship in general is never ever a good thing. Decide for yourself what you want to believe and let other people do the same. If you are on a mission to convince people to agree with you or think like you, I'm afraid you'll always end up frustrated. State your opinion, and let it stand on it's own merits.

#13 radikal

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Posted 26 March 2012 - 03:12 PM

Yes the useful bit is just the OP, the only one that has any bearing on the thread topic.
But look below at the stream of unrelated spam that followed, culminating with a kid telling me to fast 2 weeks and see if I still get acne. Kid, if you're 21 or younger, I've had acne for longer than you've been alive.

I'm not on a mission to make teenagers with poor reasoning to agree with me, or anyone else...but it's a mockery of the word "Research" to allow them to comment...when they're hardly qualified to read.
A few years back when I voiced the same concern, the "Clinical studies" sub-forum was created, a walled city of sorts, to keep out barbarians.

I guess the word "Genes" is a trigger for me to get in this condescending mode, being that I invested a fair amount of time pouring over actual research.

To conclude this otherwise pointless tirade, the lowdown is this:
THERE ISN'T and never was any doubt that hyperkeratinization is due to genetic factors. The same goes for sebum over-production. There are different alleles on different genes apparently, so when you get both (polygenic) it's a double whammy. They are linked somehow, as the rate of incidence of one is higher in the presence of the other. I have both, and my family as far as I could follow 3 generations upstream has them as well.

Just exactly WHERE in the genome (loci, chromosome) the fault is - isn't (or wasn't) known with certainty - only suspected sites. Mind you this is purely academic as a treatment couldn't be devised to take advantage of the information. However a screening test and patterns of inheritance could be discerned, and that would give me a chance to father a child without this horror bred into him.

Edited by radikal, 26 March 2012 - 03:14 PM.


#14 DaftFrost

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Posted 27 March 2012 - 09:51 PM

@MODERATORS: Since I get the feeling I'm being trolled by a grammar challenged, underage kid, I'm not adressing the poster upstream.

I would like to repeat an older request that there should be a "barrier of entry" of some sort - at least for the Research forum; I don't expect scientists to follow this board, however having an open house policy lowers its usefulness to about nil.


Sure... I just noticed about that too, oh well I have a good excuse that English is my 3rd language which I am pretty much fluent in. Not sure if you are just being arrogant about how under aged kids are inferior to you, if you think so your mind is till not wise enough to realize.

I said try that, if you have not then don't talk like you've tried it. It's a Cleansing, not just a diet. Its blood cleansing, Your body will actually be in better less sugary state for 2 weeks, was just recommending you to try that. I was not trying to troll.

I don't believe anyone here in this forum knows the actual genetic structure behind the cause of acne, we still have a lot more to research and learn about genes. We still don't know truly why even have Junk Dna and how come over 200 of our genes are actually don't exist on any other species.

I have this faith and belief that is rather hard to explain here as I don't believe anyone would actually understand but, it would be whole paragraphs if I wrote. But what I know is that, no matter what genetics wouldn't stop anyone from getting bad skin. Rather a childish idea with no "Believable" fact behind it but I wouldn't want to explain why. You can comment on this however you want.

#15 radikal

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Posted 08 April 2012 - 10:15 AM

I made a limited effort to substantiate my statements and also learned something new in the process.
Older research from 2002 (which I read back then but did not keep an index to):
http://www.nature.co...l/5603340a.html

And newer (2009) and very interesting finding:
http://www.nature.co...jid200947a.html
the take-away being: "A genetic background is suggested, with mother's acne history being the most important prognostic factor".

which is entirely aligned with my family's experience, with acne transmitted along maternal line for the three generations I have data on.
So it's a chromosome X linked defect then, hmmm...it follows that if I conceive a BOY with an unaffected female it should result in unaffected offspring if my cursory understanding of genetics is correct.
XY (me) + XX (unaffected female) --> X(clear female)Y(clear me) = clear BOY or X(clear female)X(affected me) = acne GIRL
XY (me) + XX (affected female) --> X(affected female)Y(clear me) = acne BOY or X(affected female)X(affected me) = double-acne GIRL

Looks like acne girls should not conceive, and acne guys should only have boys with clear girls; don't hate, I'm just a messenger....

Edited by radikal, 08 April 2012 - 10:32 AM.


#16 SDR WellnessCoach

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Posted 08 April 2012 - 11:31 AM

I made a limited effort to substantiate my statements and also learned something new in the process.
Older research from 2002 (which I read back then but did not keep an index to):
http://www.nature.co...l/5603340a.html

And newer (2009) and very interesting finding:
http://www.nature.co...jid200947a.html
the take-away being: "A genetic background is suggested, with mother's acne history being the most important prognostic factor".

which is entirely aligned with my family's experience, with acne transmitted along maternal line for the three generations I have data on.
So it's a chromosome X linked defect then, hmmm...it follows that if I conceive a BOY with an unaffected female it should result in unaffected offspring if my cursory understanding of genetics is correct.
XY (me) + XX (unaffected female) --> X(clear female)Y(clear me) = clear BOY or X(clear female)X(affected me) = acne GIRL
XY (me) + XX (affected female) --> X(affected female)Y(clear me) = acne BOY or X(affected female)X(affected me) = double-acne GIRL

Looks like acne girls should not conceive, and acne guys should only have boys with clear girls; don't hate, I'm just a messenger....


My mother never had Acne but my father did. Genetics may play apart but I'm leaning towards only if both parents have the same Food Allergies.

Example: My 8 year old has Asthma & Acid Reflux. His mother has Asthma, I have Acid Reflux. His mother and I are both Allergic to Gluten (as is my 8 year old). Him and his mother are both also allergic to Milk and Eggs also. I'm not. None of my 3 older kids have Acne (nor does their mother/ex-wife). I'm willing to bet she does not have a Gluten Allergy but different food allergies than me (same for 3 other kids). Meaning "the stars did not align" for Acne to be present. Just a Theory, but a very likely one IMO. Testing later to confirm this.

#17 radikal

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Posted 08 April 2012 - 11:45 AM

Well, we shouldn't multiply at all then...how are you going to "test later", more kids? You're shooting down the only "acne-free" copulation with your own existence and then you talk food allergies? What is wrong with you people, no, really?
Deeep in denial? Can't handle the truth? Brain-washed by Cordain? All three?
Have you considered for a moment that the conclusion of his Kitavan study is flawed? That they're genetically isolated and did not fuck anyone outside their gene pool? So tired of this....

#18 SDR WellnessCoach

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Posted 08 April 2012 - 12:01 PM

Well, we shouldn't multiply at all then...how are you going to "test later", more kids? You're shooting down the only "acne-free" copulation with your own existence and then you talk food allergies? What is wrong with you people, no, really?
Deeep in denial? Can't handle the truth? Brain-washed by Cordain? All three?
Have you considered for a moment that the conclusion of his Kitavan study is flawed? That they're genetically isolated and did not fuck anyone outside their gene pool? So tired of this....


Huh? So you "think" food allegies don't exist or are not highly common? LOL. Any who, yeah, I'll have my older 3 tested to find out what their food allergies are, betting they differ from mine since they are passed on from Mother to Fetus. Removing Allergies render Genetic Tendencies powerless. IF Genetics even play apart.

#19 radikal

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Posted 08 April 2012 - 02:24 PM

Of course they exist. They just have no bearing on acne. This is the part I don't get: I give you links to actual research into the genetics of acne. I propose of mecanism of action (which may or may not be right). You invalidate that (or not, if your mom did have acne and never got around to telling you). But let's assume you invalidate my hypothesis.

The actual RESEARCH I linked to is still as valid as it was before my hypothesis. Then you start talking allergies. How exactly did we get there? And what is your take on the two research papers/studies, if you read them at all?
Do you dispute/refute/ignore/change subject from them? What is your position exactly?

The young guy before you was clearly deep into ideology since he used the words "faith" and "belief", so it's worthless debating with him. I can't get a handle on your POV - yet.

#20 tritonxiv

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Posted 09 April 2012 - 11:16 AM

I made a limited effort to substantiate my statements and also learned something new in the process.
Older research from 2002 (which I read back then but did not keep an index to):
http://www.nature.co...l/5603340a.html

And newer (2009) and very interesting finding:
http://www.nature.co...jid200947a.html
the take-away being: "A genetic background is suggested, with mother's acne history being the most important prognostic factor".

which is entirely aligned with my family's experience, with acne transmitted along maternal line for the three generations I have data on.
So it's a chromosome X linked defect then, hmmm...it follows that if I conceive a BOY with an unaffected female it should result in unaffected offspring if my cursory understanding of genetics is correct.
XY (me) + XX (unaffected female) --> X(clear female)Y(clear me) = clear BOY or X(clear female)X(affected me) = acne GIRL
XY (me) + XX (affected female) --> X(affected female)Y(clear me) = acne BOY or X(affected female)X(affected me) = double-acne GIRL

Looks like acne girls should not conceive, and acne guys should only have boys with clear girls; don't hate, I'm just a messenger....


My understanding of sex-linked traits is limited. But based on what I know, in the simplest terms you'd be correct. In reality however, I'd have to theorize that acne is a polygenetic additive trait, like skin color, considering the wide range of severities we see. In other words, it's probably not as simple as XX x XY

I honestly hope it is though, for my progeny's sake. My partner is clear, so I'd definitely want her genes to "overpower" my own! Posted Image

Edited by tritonxiv, 09 April 2012 - 11:18 AM.





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