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.

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