Talk:Progeria

Progeria and hormones

Hi. I just wondered if people who suffer from Progeria's hormone cycle is the same as people not suffering from it. For example, do progeria girls' menstrual cycles start prematurely?

Jchillerup 21:17, 13 July 2005 (UTC)

Progeria in itself is just premature aging and forms a heterogenic group of diseases which can be inherited in different ways. E.g. classic (Hutchinson-Gilford) progeria is autosomal dominant, later onset (werner syndrome) progeria is autosomal recessive. --WS 23:40, 13 February 2006 (UTC)

Btw. it is more complicated than that, for a discussion of the inheritance of H-G progeria see Online Mendelian Inheritance in Man (OMIM): 176670. --WS 23:57, 13 February 2006 (UTC)

To avoid confusion, it would probably be a good idea to move this page to Hutchinson-Gilford progeria syndrome, the name that is usually used in medical literature, and give a more general overview of progeria and different syndromes here. --WS 23:47, 13 February 2006 (UTC)

But a link 'Progeria' (perhpas on a disambiguation page if 'progeria' can refer to more than just Hutchinson-Gilford progeria) should be maintained, as 'progeria' is the commonly-used lay-term for the syndrome - Jim Witte —The preceding unsigned comment was added by 216.9.143.221 (talk) 17:41, 24 January 2007 (UTC).

Inconsistency: defective DNA repair

The first part of the article states: "Unlike most other "accelerated aging diseases" (like Werner's syndrome), progeria is not caused by defective DNA repair."

Under cause, the article then states: "New evidence suggests that, as in other aging syndromes, the cause of HGPS is due to a defect in the DNA repair via the homologous recombination pathway."

It cannot be both. Though the first part of the article seems definitive when it says that HPGS is not caused by defective DNA repair. —Preceding unsigned comment added by 71.135.44.36 (talk) 20:04, 17:07, 7 March 2006 (UTC)

hi dumdum I just did a search of PUB MED and I see no sign of recent evidence suggesting a DNA repair defect causing HGPS. [1]

I think that the evidence is pretty convincing that HPGS is caused by LMNA mutations and not DNA repair defects. The paragraph suggesting DNA repair as a cause of HPGS was added on February 10 by User:212.128.162.184 who has made no other contributions to Wikipedia. Until evidence is provided for a role of DNA repair in HGPS I think the paragraph should be deleted, and I will now do so. --Ben Best 17:47, 7 March 2006 (UTC)

A recent report (Recapitulation of premature aging with iPSCs from Hutchinson-Gilford progeria syndrome, Nature Vol. 472 page 221) demonstrates that progerin, the deletion splicing mutant of lamin A that accumulates in HGPS (and to a lesser extent in normal cells), binds to and decreases the level of DNA-dependent protein kinase, which is required for nonhomologous end joining, a form of double-strand break DNA repair (which is NOT the homologous recombination pathway, which is the OTHER form of DSB repair). Since a lack of DNAPK has been shown to produce accelerated aging in mice this is almost certainly the molecular basis of HGPS (and may even contribute significantly to normal aging). 69.72.27.64 (talk) 08:36, 23 May 2011 (UTC)

Pictures

I need some pictures for a visual aid... other then people who have the disease. That is all there is on google images and all the sites I've been to. —Preceding unsigned comment added by 68.37.51.204 (talk) 03:03, 5 April 2006 (UTC)

Found some pictures

I had to have pictures for my project, so I thought this might help. If someone wants to move either or these into the arcticle thats good, but I don't know enough to do it myself. http://img125.imageshack.us/img125/1314/progeriacells0yi.jpg http://img125.imageshack.us/img125/1717/progeria6ay.jpg

The one in spanish I used a free Spanish to English translator on. Sorry for any inaccuracies! The one with the picture of the child with progeria: The first cell is a normal healthy cell and the second is a cell from someone with progeria. — Preceding unsigned comment added by 68.37.51.204 (talk)

Can you say where these images come from, if you own the copyright and whether you are willing to release the copyright? --apers0n 12:07, 22 September 2006 (UTC)

I added a picture of John Tucket, after reading an interview with him when he was in 8th grade at school. Emperor Jackal 19:41, 9 May 2007 (UTC)

The Progeria Research Foundation might be willing to grant you permission to use appropriate photographs from their collection for this article or to connect you with family members who might. Likewise, it's possible that they may grant use of their charts or graphics. It can't hurt to ask: http://www.progeriaresearch.org/ Best of luck, Wordreader (talk) 03:44, 14 January 2014 (UTC)

References

I added internal Wiki-links for the terms 'CAAX box' and 'C-termius' under the Cause section. It seems to me that basic terms like this should be defined somewhere, as should other terms for general DNA structures such as 'forkhead box', 'winged helix' - I assume these are general structures (I am not a geneticist) The referencing articles do not exist yet. - Jim Witte—The preceding unsigned comment was added by 216.9.143.221 (talk) 17:37, 24 January 2007 (UTC).

Symptoms

FYI, I removed the first sentence of the symptoms section - i.e. "Symptoms generally begin appearing around 18-24 months of age.". Progeria diagnosises have actually occurred within the first 5 months of life and certain symptoms can be witnessed at birth or shortly thereafter (i.e. FTT and a specific skin abnormalities).

Want to modify the list to include other common symptoms (i.e. lack of subcutaneous fat causing prominent veins on the head, atrophy of lower legs etc.)

Yelirmac 03:00, 17 June 2007 (UTC)

Inconsistency: Number of Cases

"Currently, there are 51 known cases in the world."

"Around 100 cases have been identified since then."

Am I missing something? --68.100.13.86 18:16, 27 July 2007 (UTC)

There are around 50 living "progerians" worldwide -- there have been over 100 diagnoses since the disease was first classified. Yelirmac 21:28, 6 August 2007 (UTC)

The article speaks of a few million reported cases, but later, says only about 100 cases have been identified. Is the one sentence referring to general accelerated aging diseases, and the other sentence referring only to HGPS? That's the only explanation I can think of. --Iritscen (talk) 15:09, 4 January 2008 (UTC)

Inconsistency: Birth Rate & Number of Cases

In the first paragraph it said 1 in 8 million children are born with this condition, but in the Epidemiology section it said there were about 100 cases documented in history. I put both of these statistics in my essay, and my professor told me there are about 134,000,000 live births each year, which would mean there are 16 million children born with this condition. —Preceding unsigned comment added by 75.161.148.200 (talk) 22:41, 15 July 2009 (UTC)

That's what you get for using Wikipedia as a source. TillsTalk 01:21, 29 July 2009 (UTC)

It seems that the professor was wrong. If 1 in 8 million children are born with the condition, and 134 million children are born each year, then on average 16 children are born with the condition each year. The only way your professor would be correct is if you had actually put "1 in 8 children are born with the condition". The "1 in 8 million" statistic seems to be incorrect, though -- the frequency is later reported as "1 in 4 million", and this checks out in the cited article's abstract. Emw2012 (talk) 01:50, 29 July 2009 (UTC)

This information in the article is sourced (but the article body said 1 in 4 million, based on a study in the Netherlands, and the lede was just corrected by someone to agree with that). You should have looked up the sources the article quoted and used them, rather than the article itself, in your essay. See Citing Wikipedia.

The discrepancy you point out is hugely magnified by an arithmetic error on your part. Assuming your professor is correct about 134 million births per year, 1 in 4 million would be about 33 children with progeria born per year (and 1 in 8 million would be about 16, not 16 million). The majority of these would be born in developing countries, where they may not come to the attention of the medical establishment and be reported in Western studies, thus you would expect the number of current known cases, and of historical cases, to be significantly less than the real number of cases. This effect is more pronounced than for other medical conditions because people with progeria almost all die as children.-gadfium 01:57, 29 July 2009 (UTC)

Jargon

There's a lot of jargon in the overview section, particular the paragraph that starts with "Prelamin A...". It's unreadable to the layman. So I've tagged it in hopes of a cleanup or revision. (Darthveda (talk) 13:19, 6 February 2008 (UTC))

Living people

Do we really want to include the names of living people with this condition? If you were a child with this condition, would you necessarily want the entire world to know your family's name, town, and medical history? I'm inclined to remove the family names and leave just a general location (region or country). WhatamIdoing (talk) 21:05, 31 May 2008 (UTC)

Leslie Gordon encouraged media coverage of her son Sam, and other families encouraged media coverage of their children, because they believed that it would draw attention to their case and encourage research. This strategy was successful.

Their names were public because they chose to disclose them. If the families think it is to their advantage to disclose their names, I think we should follow their wishes.

If you don't identify families by name, and you read about 2 families, you don't know whether you're reading about 2 families reported twice, or 2 different families. It makes a big difference (statistically and epidemiologically) whethere there is only 1 reported family with inherited progeria, or more than 1. Nbauman (talk) 15:26, 1 June 2008 (UTC)

Sam Berns (somebody want to write an article?), the son of Dr. Gordon and her husband, Dr. Scott Berns, recently died. Sam was the couple's inspiration for starting The Progeria Research Foundation. Family friend, Dr. Francis Collins, Director of the National Institutes of Health, dedicated his blog entry to Mr. Berns and discusses what progeria research has been accomplished in the past decade: http://directorsblog.nih.gov/2014/01/12/in-memory-of-sam-berns/. Here's a TED Talk from April 2012 in which Dr. Collins discusses a search for drug therapies for rare diseases accompanied by Mr. Bern: http://www.ted.com/talks/francis_collins_we_need_better_drugs_now.html , and a TEDxMidAtlantic 2013 presentation by Mr. Berns: http://www.youtube.com/watch?v=36m1o-tM05g Thank you, Wordreader (talk) 04:44, 14 January 2014 (UTC)

Since you seem to know a bit about this, I would recommend you expand on the article about the Progeria Research Foundation. I personally don't know if Sam Berns is notable enough in his own right to make an article about him worthwhile, however, as an impetus for the creation of a notable organization I think it would be reasonable to cover the founders and their reasoning, motivation, and history in doing so within the article about that organization.Centerone (talk) 06:26, 14 January 2014 (UTC)

Derivation of the name

Clearly the term comes from Ancient Greek (as most medical terms do) however could we get the exact derivation in the first line of the article. From my rough knowledge of Ancient Greek, it should read something along the lines of:

Progeria (from Greek[link to Greek language] Προγερια - Προς, pros, towards; and Γερον, geron, age.) refers specifically to... etc.

This needs to be checked. I am not sure if I have got the word broken down correctly (i.e. it might be geria or geron or some other form) and I am also not sure about my translations, I have a funny feeling geron might mean old man instead of just old age. So if someone with a little more Ancient Greek knowledge could put it in that would be helpful.

Fildon 15:18, 8th of August 2008 (GMT)

Popular culture

The popular culture section seems to attract trivial entries from popular entertainment. Furthermore, in almost every case, the 'progeria' is not actually progeria; it's an invented syndrome with remarkably little connection to the real thing. Could we perhaps turn this into a paragraph about the way that progeria is misrepresented in popular culture? Does anyone know of any sources that we could use to support it? WhatamIdoing (talk) 01:42, 14 November 2008 (UTC)

I agree with WhatamIdoing. I came to the "Talk" page because the "Popular culture" section looks like a list of greatest hits. Some items actually involve progeria, some are merely speculated to do so. The items aren't even in alphabetical or chronological order. Incorporating the information into a cited paragraph will help winnow the chaff. The member's suggestion about misrepresentation of the disorder in popular culture is a good one as long as sources can be found that do so. Otherwise, there might be the temptation to lapse into original research. Thank you, Wordreader (talk) 02:03, 14 January 2014 (UTC)

Popular Culture: requests for inclusion

I'm not sure where this information might go in the article, but Rabbi Harold Kushner's son, Aaron, died of progeria in 1977 at age 14. Kushner is the author of the book "When Bad Things Happen to Good People". 98.229.226.9 (talk) 04:36, 2 December 2008 (UTC) Bob Hynes, 1-Dec-2008

Someone please add something about S1E2 concept of Fringe on popular culture section! —Preceding unsigned comment added by 91.99.165.139 (talk) 12:27, 20 February 2010 (UTC)

From what I can tell the S1E2 is nothing related to progeria but may be put under Accelerated aging disease. As for someone adding something, if you want something added, best way of getting it done is adding it yourself. Kylin13 (talk) 18:09, 2 February 2011 (UTC)

Inherited progeria

I'd like some opinions on the changes in this diff. It's correct that there was a Bodyshock program about an Indian family with five children suffering from progeria - see [2], but there is also at least the family with two children at [3]. There may be a difference in terminology here, perhaps a confusion between Classical Hutchinson-Gilford Progeria and something else called progeria, such as Werner syndrome. I've read Bruce Korf's paper (reference 2 in the article) and it doesn't discuss families with more than one children suffering from progeria.

The latter link gives the number of living people with progeria as being between 35 and 45, and the anon has given the number as precisely 48 without giving a reference or updating the ref given.

It would appear that the anon's edit is insufficiently referenced, but it is not obviously incorrect. Perhaps it has some information previously missing from the article. I reverted it as being contrary to the sources a few days ago, but now that I've looked at it in more detail, I think perhaps our sources are incomplete.-gadfium 00:58, 21 January 2009 (UTC)

Well, if there is a WP:RS, we follow that. I would take the NEJM article as authoritative, but you can't access that without a subscription. Nbauman (talk) 03:51, 21 January 2009 (UTC)

I think we can afford to take a pretty hard line with the referencing. If it's not in the listed ref, it shouldn't be in the article. WhatamIdoing (talk) 00:17, 22 January 2009 (UTC)

Progeria under endocrine pathology?

The navigation bar (is that what it is called?) at the bottom of the page classifies progeria as an endocrine disorder, but I can't see the link to hormones in what is essentially a genetic nuclear disorder.

Tanjx (talk) 09:12, 28 September 2009 (UTC)

Media/Awareness

There is also a 'HINDI' movie based on this diesease by the name PAA (meaning 'father' in English). The lead role in the movie is played by legendary star of Hindi Cinema Amitabh Bachchan and his son Abhishek Bachchan. The female lead in the movie is played by Vidya Balan. —Preceding unsigned comment added by 202.79.203.43 (talk) 07:28, 13 February 2010 (UTC)

The article mentions this. See Progeria#Popular culture, second paragraph. The details of the actors is not relevant here.-gadfium 07:48, 13 February 2010 (UTC)

Age / Oldest

The article contains this referenced statement: "Those born with progeria typically live about thirteen years, although many have been known to live into their late teens and early twenties and rare individuals may even reach their forties." Since I don't have access to these articles, can someone double check them? In particular I am curious about the upper age limit for progeria survival. According to: http://www.progeriaresearch.org/about_progeria.html " Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years). * Other progeroid syndromes include Werner's syndrome, also known as "adult progeria" which does not have an onset until the late teen years, with a life span into the 40's and 50's." Since this is in reference to 'other progeroid syndromes' like Werner's syndrome, the reference to people with progreria reaching their forties may be incorrect. The only reference I was able to find such a thing was the following article which I think most likely spells out that he had a teen-onset progeroid syndrome, not progeria: [I can't post the url here because it triggers a spam filter, but it's an associated content article that I was only able to see by looking up it's cache on google.] Centerone (talk) 01:28, 11 March 2010 (UTC)

Separate Article for HGS

A progeria is a disease where the patient experiences some characteristics linked to aging quicker than normal. Hutchinson-Gilford should be a separate article because it is an example of a progeria. We should not confuse a progeria with HGS. This article should link to all the possible progerias: Hutchinson-Gilford Syndrome, Werner's Syndrome, and Downs Syndrome.

Cheers —Preceding unsigned comment added by 70.27.31.100 (talk) 03:17, 12 November 2010 (UTC)

"accelerated aging" and similar labels

I encourage editors to watch out for these erroneous labels. Given that 1) the etiology of aging is unknown and 2) progeria does not fully resemble aging, these labels are very misleading despite their prevalent use.--Xris0 (talk) 21:26, 25 January 2011 (UTC)

Would someone who has the reference books please get this right.

In the introduction it says:

Those born with progeria typically live to their mid teens and early twenties.[4][5]

Further down in the article it states that children with this condition rarely reach 21,

There is also a statement referring to early teens.

OK! let's get it consistent. It's important. Kids with this condition read Wikipedia, just like all the rest. This is the article that pops up first if you Google. So what is the expectancy? Is it "typically" early 20s or "rarely" 21? Amandajm (talk) 15:03, 2 November 2011 (UTC)

Starchild skull

HELP Hi Kids! I know maybe it sound ridiculous for all of you that are so clever and so informed about this awful disease, but I am consern about a BIG STUPID ARGUMENT in another knowledge area that maybe can be resolve with clarifying what is Progeria. Let me ask, What do you know about the starchild skull and, can it be a progerian kid skull, as the picture i upload on my website, shows? I want to clarify that is most possible to find a progerian kid skull than an et hibrid skull. Thanks a lot for your really awesome research. (http:tienesmiedoapensar.blogspot.com) — Preceding unsigned comment added by C (talk • contribs) 06:28, 9 December 2011 (UTC)

You might be better addressing this question to the science reference desk. It is not appropriate to talk about supposed alien skulls in the talk page of a medical article.-gadfium 07:48, 9 December 2011 (UTC)

Thanks for the advice, i will write at science forum, hate ufology, but i wonder if you can help me, as a fact i was trying to find a specialist in progeria that can help me to find similarities between this skull and the progerias (particulary their cc). You re right sorry for my mistake, Jean Bernstein

the Starchild skull is a very disputed article however and I think Jean wishes for someone more knowledgeable on the topic to provide their insight onto the topic as the "owner" of the topic won't see to reason. — Preceding unsigned comment added by Judicier (talk • contribs) 02:26, 26 November 2012 (UTC)

Consistency

The introduction states, "Those born with progeria typically live to their mid teens and early twenties."

Then there is this sentence under the prognosis section: "As there is no known cure, few people with progeria exceed 13 years of age."

This is a vast discrepancy which ought to be fixed. Unfortunately I do not have access to all of the source material. I am also concerned about the wording of the latter of the two since the reference to it reads, "On average, they die at 13." To say few people exceed 13 is misleading. --Kmonkmon (talk) 06:35, 19 July 2012 (UTC)

The Progeria Research Foundation website provides a lot of data that writers may find useful. Progeria Research Foundation --> "Meet the Kids" --> "In Memory Of" section, http://www.progeriaresearch.org/in-memory-of.html, children known to have died from 1999 to 2012 range in age from 2 years to 26 years. Only 26 of 56 named children reached 13 years and only 5 of 56 named children reached 20 years (if I've counted correctly).

The "PRF By The Numbers" slide show gives data, copyrighted 2013, on the global number of their registered children, the number of currently living children, and is broken down by country, as well as other data: http://www.progeriaresearch.org/prf-by-the-numbersprf.html

This page, "Progeria 101/FAQ", also sources gives some of the basic data that the article mentions (average age at death, Werner's syndrome statistics, the rate among newborns): http://www.progeriaresearch.org/progeria_101.html

The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria provides background information, diagnosis, physiological effects, and describes current therapies: http://www.progeriaresearch.org/assets/files/PRFhandbook_0410.pdf

Thank you for your time, Wordreader (talk) 04:04, 14 January 2014 (UTC)

A two and a half year study has found an effective treatment

See http://www.progeriaresearch.org/first-ever-progeria-treatment.html

I appreciate that I could make the changes to the article, but I think it better done by someone with a far greater medical knowledge than myself, or at least by someone more familiar with this article. Consider this a head's up.  fredgandt 21:41, 24 September 2012 (UTC)

Self-contradictory: Cause

The table at the begining of the "Cause" section states that in a normal cell "Prelamin A is not anchored to the nuclear rim", while in a cell affected by progeria "Progerin is anchored to the nuclear rim".

At the same time the text that follows the table states exactly the opposite: in a normal cell "...permanently affixes the protein (prelamin A) to the nuclear rim...", while in the affected cell "...abnormal protein, referred to as progerin, cannot be affixed to the nuclear rim..." — Preceding unsigned comment added by Calligrapher (talk • contribs) 17:06, 25 September 2012 (UTC)

Copyvio in captions

The captions, which have already been marked as being too long, are copied wholesale from [4]. This is a clearly copyright violation. I've removed the large image which seems to be based entirely on this research and which will need a new caption, if it is added back to the article. I've trimmed the captions on the other two images. -- Hazhk ^{Talk to me} 20:10, 25 November 2012 (UTC)

Nuclear rim

I have not found "nuclear rim" defined anywhere in Wikipedia. I found a definition at the following website which describes multiple sclerosis.

<http://www.biologyreference.com/Mo-Nu/Nuclear-Transport.html>

A nuclear rim is not the rim of the nucleus, but the inner (nuclear) end of a nuclear pore. I do not know whether it is structurally or compositionally different from the rest of the pore.

The article states that "The farnesyl group allows prelamin A to attach temporarily to the nuclear rim". I have severe doubts about this, but i do not know the relevant literature well enough to adequately research it. It is obvious that a good source needs to be cited.

I suspect that the writer mistook the inside of the nuclear envelope for the nuclear rim. It is also possible that the writer confused the nuclear lamina with the nuclear basket. The latter is attached to the nuclear rim. 76.93.209.228 (talk) 23:39, 26 December 2015 (UTC)

Cures

So I was reading about an "immortal jellyfish" after I read about progeria, and I was just thinking that for a cure they could just use special hormones or something from the Turritopsis nutricula (the immortal jellyfish). It would kind of make sense in a way… Byu cougs (talk) 05:13, 7 April 2017 (UTC)

Jellyfish are very different from humans. Even mouse models very often don't translate well to humans.-gadfium 05:42, 7 April 2017 (UTC)

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Copyright cleanup

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Benjamin Button?

Hello

I was a bit surprised by the sentence "Progeria, also known as "Benjamin Button Disease", and wonder if Progeria is truly refered to as such or of it might be the editor's personal opinion? After all, the character Benjamin Button was born looking aged but then became younger and younger looking, not older looking, which on the other hand individuals with Progeria do. Honestly, the only time I had hitherto seen that term (Benjamin Button) is in regards of individuals that appear to not age. For instance the following, who is described as "The Benjamin Button of Korea"; https://www.koreaboo.com/stories/30-year-old-korean-man-rare-condition-makes-look-like-child/

Or this case, where a skincare company is named Benton Inc.; a contraction of Brad Pitt's character Benjamin Button, who the founder described as "a man who ages in reverse", which, as we know, is true about his character.

So, is there truly any support for the claim in question, that Progeria is also known as Benjamin Button Disease?

Thank you. Okama-San (talk) 16:59, 10 September 2019 (UTC)

moved to popular culture section. --Akrasia25 (talk) 20:54, 10 November 2020 (UTC)

Pop culture -- Justin Tsimbidis

I believe the YouTuber Justin Tsimbidis (used to be Tsimfuckis) has progeria as well. He is currently 28 years old. Doris Mae1997 (talk) 04:27, 3 October 2021 (UTC)

Lede questions

The lede says "Patients born with progeria typically live to an age of mid-teens to early twenties" but under Prognosis it says "few people with progeria exceed 13 years of age", and this is in the summary box at the top as well. This doesn't seem consistent.

It also says "Progeroid syndromes are a group of diseases that causes individuals to age faster than usual", but the page on Progeroid syndromes says that they mimic physiological aging, which doesn't seem like quite the same thing.

Can someone comment on this? I have no subject knowledge here. RapturousRatling (talk) 20:13, 28 January 2022 (UTC)