Progeria

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d üzenle-tr Progeria : halk dilindeki adıyla erken yaşlanma hastalığı ! konu hakkında yapılan bilimsel araştırmalar hastalığın çağresini bulmaktan ziyade hastalığa sebep olan faktörleri bulmak ve bu sayede insanlığın ömürünü uzatabilmek Infobox_Disease | Name = Progeria | Image = | Caption = | DiseasesDB = 10704 | ICD10 = ICD10|E|34|8|e|20 | ICD9 = ICD9|259.8 | ICDO = | OMIM = 176670 | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 731 | MeshID = D011371 | The term progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is issued to describe any of the so-called " s". The word progeria is derived from the Greek for "old age". <!---->

Overview

Because the "accelerated aging" diseases display different aspects of aging, but never every aspect, they are often called "segmental progerias" by . Hutchinson-Gilford Progeria syndrome is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated in sufferers. The disease affects between 1 in 4 million (estimated actual) and 1 in 8 million (reported) newborns. Currently, there are 51 known cases in the world. There is no known cure, but several discoveries have been made that have lead to greater understanding and perhaps eventual treatment.<ref>Capell BC, Collins FS, Nabel EG. mechanism of Cardiovascular Disease in Accelerated Aging Syndromes. Circulation Research 2007 Jul 6; Vol. 101 (1), pp. 13-26.</ref> Most people with progeria die around 13 years of age.<ref name="USA T">cite web | url=http://www.usatoday.com/news/science/2003-04-16-agin-gene_x.htm | title=Gene found for rapid aging disease in children | author=Steve Sternberg | date=April 16, 2003 | publisher=USA Today | accessdate=2006-12-13 </ref> Progeria is of interest to scientists because the disease may reveal clues about the process of aging. Unlike most other "accelerated aging diseases" (such as , or ), progeria is not caused by defective . The condition was first identified in 1886 by
1886 yılı olayları, ölümler, doğumlar ve diğer önemli gelişmeler
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and . The condition was later named Hutchinson-Gilford Progeria syndrome (HGPS). Around 100 cases have been identified since then.<ref name="USA T"/> A 2003 report in Nature said progeria may be a . It develops during in a newly conceived child or in the s of one of the parents. It is caused by s in a LMNA ( protein)
Albüminli madde; organizmanın en önemli yapı taşı. Amino asitlerin birleşmesinden meydana gelmiş karmaşık yapılı organik moleküllerdir. Kelime olarak “en önemli” mânâsına gelen protein, gerçekten de canlının en önemli maddesini teşkil eder. Bütün canlıların hücreleri protein ihtivâ eder. Proteinler hücre stoplazmasında çözünmüş hâlde bulunur. Kas, karaciğer gibi organ ve dokuların % 80-90’ı proteindir. Kemik sistemi ve yağ dokusunda ise protein daha azdır.
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on . is a protein around the edge of the that helps organize nuclear processes such as RNA and
Ribonükleik asit, nükleotidlerin ard arda yerleşmesiyle birleşmiş tek diziden oluşan yüksek kaliteli moleküldür. Hücrelerde DNA ile birlikte çalışarak protein sentezlenmesinde rol alır. Nükleotid dizisinde şeker ribozdur, azotlu bazlar ise adenin, sitozin, guanin ve urasildir.
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DNA synthesis. Prelamin A contains a
DNA Alm. Deutscher Normenausschuss, Fr. Acide desoxyribonucleique, İng. Desoxyribonucleic asid. Kalıtımda rol oynayan organik bir molekül. Bir nükleik asit çeşidi. “Deoksiribo nükleik asit” adını alır. Kısaca “DNA” olarak gösterilir. Canlılarda yönetici bir moleküldür. Hücrenin protein ve enzim sentezinde rol oynar. Ayrıca yeni bir hücre meydana getirecek gerekli elemanları taşıdığından hücre bölünmesinin esasını teşkil eder.

İlk defa A.F.Mıescwer adl
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at the of the protein (where C is a and A is any ). This ensures that the cysteine is , and this allows Prelamin A to bind membranes, specifically the nuclear membrane. After Prelamin A has been localized to the cell nuclear membrane the C-terminal amino acids, including the farnesylated cysteine, are cleaved off by a specific protease. The resulting protein is now Lamin A, is no longer membrane-bound and carries out functions inside the nucleus. In HGPS the recognition site that the enzyme requires for the cleavage of Prelamin A to Lamin A is mutated. Lamin A cannot be produced and Prelamin A builds up on the nuclear membrane, causing a characteristic nuclear blebbing.<ref>cite journal | title=Ageing nucleus gets out of shape|journal= | year=2006| date=March&nbsp;2, 2006 | volume=440 | pages= 32&ndash;34 |id=PMID 16511477</ref> This results in the premature aging symptoms of progeria, although the mechanism connecting the misshapen nucleus to the symptoms is not known. A mouse model of progeria exists, though in the mouse the LMNA prelamin A is not mutated, but instead the specific protease that is required to remove the C-terminus of Prelamin A is missing. Both cases result in the build up of farnesylated Prelamin A on the nuclear membrane and in the characteristic nuclear LMNA blebbing. Fong et al use a farnesyl transferase inhibitor (FTI) in this mouse model to inhibit protein farnesylation of Prelamin A. Treated mice had greater grip strength, lower likelihood of rib fracture and may live longer than untreated mice.<ref>cite journal | author=Loren&nbsp;G.&nbsp;Fong| title=A&nbsp;Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria | journal= | year=2006 | date=March&nbsp;17, 2006 | volume=311 | issue=5767 | pages=1621-&ndash;3| url=http://www.sciencemag.org/cgi/content/abstract/1124875v1 |id=PMID 16484451</ref> Note that this method does not directly 'cure' the underlying cause of progeria. This method prevents Prelamin A going to the nucleus in the first place so no Prelamin A can build up on the nuclear membrane, but equally there is no production of normal Lamin A in the nucleus. Luckily Lamin A does not appear to be essential, indeed mouse models in which the genes for Prelamin A and C are knocked out show no symptoms. This also shows that it is the build up of Prelamin A in the wrong place, rather than the loss of the normal function of Lamin A that causes the disease. A study which compared HGPS patient cells with the skin cells from LMNA young and elderly human subjects found similar defects in the HGPS and elderly cells, including of certain nuclear proteins, increased DNA damage and demethylation of leading to reduced .<ref>cite journal | author=Scaffidi P, Misteli T | title=Lamin A-dependent nuclear defects in human aging | journal= | year=2006 | date=May&nbsp;19, 2006 | volume=312 | issue=5776 | pages=1059-&ndash;63 | id=PMID 16645051</ref> s over their lifespan show progressive lamin changes comparable to HGPS in all cells but neurons and s.<ref>cite journal | author=Haithcock E, Dayani Y, Neufeld E, Zahand AJ, Feinstein N, Mattout A, Gruenbaum Y, Liu J| title=Age-related changes of nuclear architecture in Caenorhabditis elegans | journal= PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES (USA) | year=2005 | date=December&nbsp;27, 2005 | volume=102 | issue=46|pages=16690-16695| url=http://www.pnas.org/cgi/content/full/102/46/16690 |id=PMID 16269543</ref> These studies suggest that lamin&nbsp;A defects contribute to normal .

Symptoms

The earliest symptoms include (FTT) and a localized -like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are characteristic of progeria. Later the condition causes wrinkled skin, and problems. Mental development is not affected. Individuals with the condition rarely live more than 17 years; the longest recorded life-span was 29 years. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, victims show no or predisposition. The people diagnosed with this disease usually have fragile elderly-like bodies.

Influences and references on or in popular culture

  • The movie Blade Runner featured a character named who suffers from a progeria-like disease which he refers to as " Syndrome". The name is ironic, as progeria causes rapid aging and death, while was known for living to a very great age.
  • In the The X-Files episode " ", a doctor created a method of reversing progeria and humans.
  • In the science-fiction novel by , a young boy in his teenage years (Orlando Gardiner) is affected by progeria.
  • In 1996, the movie tells the story of a ten year old boy ( Robin Williams) with an aging disorder much like progeria, although depicted closer to an accelerated version of .
  • In the 1983 movie , Dr. Sarah Roberts's work on aging, including a study of progeria, attracts the attention of immortal Miriam Blaylock, who fears her mate John will soon start fatal rapid aging.
  • In season two, episode two of The Venture Bros., insults attire (a short-sleeve jumpsuit) by saying their captors will "...think you're a three-year-old with progeria and take pity on us."
  • In season four, episode seven (The Scientific Method) of , the Doctor briefly brings up progeria, stating it was a rare case in children and that it was eradicated centuries ago.
  • In the novel by Chuck Palahniuk, Brandon Whittier, who organizes the retreat, is a progeria sufferer.
  • In the 2006 futuristic animated film Renaissance, the character of Claude Muller suffers from progeria. The disease also features as a significant plot point in the movie.
  • In the animated series " ", numerous references are made about progeria being "nature's cruelest joke".
  • In the book by Robert Ludlum, the children imprisoned in the "Clockworks" have progeria.
  • In the Filipino TV show " ", they documented two children with a real case of progeria.
  • A charity CD to raise money into the research of progeria was released in 2006. Titled - 'VOICES OF TOMORROW', the song features young UK progeria sufferer Hayley Okines on vocals. There is more information at
  • http://www.myspace.com/song4progeria Song For Progeria
  • In the popular sci-fi series , many of the transgenics suffer from progeria.
  • In season two of the popular youth sci-fi series " " cases of a progeria-like disease are depicted. This caused by the virus that killed all adults in the beginning of the first season.
  • The protagonist of the 2000 play "Kimberly Akimbo" by is a sixteen year old girl with progeria.
  • In the novel "The Magic Kingdom" by Stanley Elkin, a British man offers a dream vacation to Disneyland to six kids suffering from terminal diseases. One of the kids, named Charles Mudd-Gaddis, suffers from Progeria.
  • In the anime " ", the character has shortened telomeres due to genetic engineering that cause him to age at an accelerated rate. Without regular doses of a special medication, this causes him intense pain.
  • The season finale of " " season two portrayed a murder victim afflicted with progeria.
  • In the second season of " ", Will Smith meets a character with progeria.
  • In 's Company novels, it is repeatedly stated that there was an experiment in human cloning, but the clones developed progeria (apparently in the general sense of accelerated aging). The idea that clones would be subject to accelerated aging appears to have arisen from the reports that had shortened telomeres, which .
  • In 's novel " ", a pandemic described as similar to Hutchinson-Gilford syndrome causes the depopulation of Britain. The effects of the disease affecting small children mirror that of the progression of Progeria.

    See also

  • References

    reflist

    External links

  • http://seattlepi.nwsource.com/specials/seth/190908_progeriamain.asp "A Time to Live" &ndash; Seattle Post-Intelligencer feature about Seth Cook, a child with Progeria.
  • http://seattlepi.nwsource.com/local/321200_seth26.html "Seth Cook, 1993-2007" &ndash; Seattle Post-Intelligencer obituary for Seth Cook.
  • http://www.channel4.com/health/microsites/0-9/80_year_old_children/index.html Bodyshock: The 80-Year-Old Children
  • http://www.mymultiplesclerosis.co.uk/misc/hayleyokines.html The Girl who is older than her Grandmother
  • http://news.bbc.co.uk/2/hi/south_asia/4286347.stm "Family tormented by ageing disease" &ndash; BBC News article on a family with Progeria; cites study that progeria is inheritable.
  • http://www.hgps.net Hutchinson-Gilford Progeria syndrome Network
  • http://www.hgps.net/media/ Media &ndash; a list of references in common culture
  • http://www.progeriaresearch.org/ Progeria Research Foundation
  • http://www.progeria.ca/ Progeria News and Media Collection
  • http://www.benbest.com/lifeext/aging.html#progeria Segmental Progeria
  • http://deltaboost.blogspot.com/2006/03/news-farnesyl-transferase-inhibitors.html Farnesyl transferase inhibitors may help children with Hutchinson-Gilford progeria &ndash; Article on the use of FTI inhibitors as potential treatment Endocrine pathology Categories -->

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