E’ la terribile malattia che accelera il tempo della vita, la progeria di Hutchinson-Gilford, disordine genetico estremamente raro che colpisce 1 bimbo su 8 milioni di nati vivi.

Dal greco πρό, “prima” e γέρων, “vecchio, anziano”, fu descritta da Jonathan Hutchinson nel1886 e successivamente da Hastings Gilford nel 1904.

Condanna i bambini affetti ad un invecchiamento estremamente rapido, già visibile in età neonatale: i sintomi sono vari e si presentano nei primi mesi di vita, comprendono problemi cardiovascolari, osteoporosi, aterosclerosi, insufficienza renale, cianosi facciale, alopecia, perdita di grasso sottocutaneo e difficoltà di crescita.

Il fenotipo della sindrome è caratteristico, e porta il bambino affetto ad assumere tratti tipici dell’età avanzata. In particolare si notano testa stretta, particolarmente voluminosa rispetto al corpo, micrognazia,naso che ricorda la forma di un becco, occhi prominenti, alopecia per quanto riguarda ciglia, sopracciglia e capelli, orecchie protrudenti con assenza dei lobi, labbra sottili, cianosi facciale e voce particolarmente acuta.

Con lo sviluppo del piccolo i sintomi vanno aggravandosi, al punto che la mente, che non viene colpita dalla sindrome, rimane l’unico indice della vera età del malato. L’aspettativa di vita degli affetti è anch’essa duramente condizionata, la media si aggira intorno ai tredici anni, con un range che va dai 3 ai 27 anni. Ad oggi si contano circa 150 casi in letteratura, non è stata evidenziata un’incidenza particolare per il sesso, mentre per il 97% dei casi è l’etnia caucasica ad essere colpita, con la copresenza nel 75% dei disordini cardiovascolari.

La progeria appartiene ad un gruppo di patologie chiamate LAMINOPATIE, accomunate dal fatto che colpiscono le lamine nucleari.

Microscopia a fluorescenza. Deformazione scaffold Lamina A
Immagine struttura nucleare al microscopio a fluorescenza. L’immagine di sinistra mostra una corretta disposizione dello scaffold nucleare, cosa che non avviene nell’immagine di destra a causa della corretta produzione di LMNA

Le lamine sono delle proteine che vanno a costituire una fitta rete di filamenti intermedi che avvolge le faccia interna della membrana nucleare, determinando integrità, volume e forma del nucleo. Inoltre, considerate le numerose interazioni tra la cromatina e le strutture nucleari, giocano un ruolo fondamentale nella replicazione del DNA, nel mantenimento dell’integrità di cromatina, cromosomi e telomeri, nel controllo del ciclo e della differenziazione cellulare.

Vi chiederete quale sia la causa di questa devastante patologia. La causa è una mutazione scoperta dalla ricercatrice italiana Paola Scaffidi, a carico del gene LMNA, che codifica per le lamine A/C. In particolare la mutazione porta ad un errato processamento delle lamine A, con la produzione di una proteina anomala chiamata “progerina”.

La ‘progerina’ mette l”acceleratore’ alle cellule staminali, portandole ad esaurire prematuramente il proprio ciclo vitale e a produrre in modo dissennato tessuti. ! !!La ricercatrice italiana si è accorta che la proteina sconvolge il ciclo vitale delle cellule staminali mesenchimali, fondamentali per lo sviluppo di tessuti quali ossa e muscoli, inducendo uno sviluppo incontrollata di tessuto osseo e massa grassa, fenomeni che riflettono il decorso della patologia ed i suoi sintomi.

Piccole quantità di progerina vengono prodotte anche negli individui sani e col passare dell’età si accumulano nell’organismo inducendo effetti simili a quelli osservati nella progeria, pertanto il meccanismo alla base della progeria potrebbe essere rilevante anche nei normali processi di invecchiamento; inoltre l’idea che alterazioni ai danni delle cellule staminali inducano processi di invecchiamento è supportata anche da studi effettuati sui topi.

Attualmente purtroppo non esistono cure in grado di contrastare questo terribile male, ma vi sono dei trattamenti clinici che permettono di alleviare i sintomi e cercare, quantomeno, di rallentarne il decorso.


  1. Greetings from Colorado! I’m bored to death at work so I decided to check out
    your blog on my iphone during lunch break. I enjoy
    the knowledge you present here and can’t wait to take a
    look when I get home. I’m shocked at how fast your blog loaded on my mobile
    .. I’m not even using WIFI, just 3G .. Anyways, great site!

  2. Hiya! Quick question that’s entirely off topic. Do you know how to make your site mobile friendly?

    My web site looks weird when browsing from my iphone
    4. I’m trying to find a theme or plugin that might be able to resolve this problem.

    If you have any suggestions, please share. With thanks!

  3. We are a group of volunteers and opening a new scheme in our
    community. Your web site offered us with useful info to work on. You’ve performed a formidable
    process and our entire neighborhood will probably be grateful to you.

  4. Whats up this is kind of of off topic but I was wondering if blogs use WYSIWYG editors or if you have to manually
    code with HTML. I’m starting a blog soon but have no coding skills so
    I wanted to get advice from someone with experience. Any help would be enormously appreciated!

  5. Write more, thats all I have to say. Literally, it seems as though you relied on the
    video to make your point. You definitely know what youre talking about,
    why throw away your intelligence on just posting videos to your
    weblog when you could be giving us something enlightening to read?

  6. It is appropriate time to make a few plans for the longer term and
    it’s time to be happy. I’ve read this put up and if I may I desire to counsel you few interesting issues or tips.
    Perhaps you could write next articles regarding this article.
    I wish to read more issues approximately it!

  7. I don’t know whether it’s just me or if everybody else encountering issues with your website.
    It looks like some of the written text in your posts
    are running off the screen. Can somebody else please comment and let me know if this is
    happening to them too? This could be a issue with my internet browser because I’ve had this happen before.

  8. Do you have a spam issue on this website; I also am a blogger, and I was curious about your
    situation; we have created some nice methods and we are looking to swap strategies with other folks, why not shoot
    me an email if interested. pof natalielise

  9. You actually make it appear really easy together with your presentation but I to find this matter to be actually something that I feel I’d by no means understand.

    It seems too complex and extremely wide for me.
    I’m taking a look ahead in your next post, I will try to get the hold of it!
    natalielise pof

  10. What’s Happening i’m new to this, I stumbled upon this I’ve discovered It absolutely helpful and it has aided me out loads.
    I’m hoping to give a contribution & aid other customers like its aided me.
    Great job.

  11. Hi this is kind of of off topic but I was wanting to know if blogs use WYSIWYG editors or if
    you have to manually code with HTML. I’m starting a blog
    soon but have no coding knowledge so I wanted to get guidance from someone with experience.

    Any help would be enormously appreciated!

  12. Hey there! I understand this is kind of off-topic but I
    needed to ask. Does running a well-established blog such as
    yours require a large amount of work? I am brand new to running a
    blog but I do write in my journal everyday. I’d like to start a blog so I can share
    my experience and thoughts online. Please let me know if you
    have any kind of ideas or tips for new aspiring blog owners.


  13. I like the helpful info you provide to your articles.
    I’ll bookmark your weblog and test once more here regularly.
    I am fairly certain I will be informed many new stuff right right here!
    Best of luck for the next!

  14. I really love your blog.. Excellent colors & theme. Did
    you create this web site yourself? Please reply back as I’m trying to create
    my own personal website and would like to find out where you got this from or just what the theme is called.


  15. After looking into a handful of the articles on your web page, I seriously like your technique
    of blogging. I bookmarked it to my bookmark webpage list and will
    be checking back in the near future. Please check out my website too and let me know
    your opinion.

  16. you are in reality a excellent webmaster. The
    web site loading pace is amazing. It sort of feels that you are doing any unique trick.
    Also, The contents are masterpiece. you’ve done a magnificent job on this subject!

  17. Hey There. I found your weblog the use of msn. This is an extremely neatly written article.

    I will be sure to bookmark it and return to read extra of your useful information. Thank you for the post.

    I’ll definitely comeback.

  18. Hey there just wanted to give you a brief heads up and let you know a few of the pictures aren’t loading properly.

    I’m not sure why but I think its a linking issue.
    I’ve tried it in two different web browsers and
    both show the same outcome.

  19. It is appropriate time to make some plans for the future and it’s time to be happy.
    I’ve read this post and if I could I want to suggest you few interesting things
    or advice. Perhaps you can write next articles referring to this article.
    I want to read even more things about it!

  20. Amazing blog! Do you have any hints for aspiring writers? I’m planning to start my
    own blog soon but I’m a little lost on everything. Would you recommend starting with
    a free platform like WordPress or go for a paid option? There are
    so many options out there that I’m totally overwhelmed ..
    Any tips? Many thanks!


Please enter your comment!
Please enter your name here