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Identificato il gene responsabile del gigantismo

Charles Byrne

La ‘razza dei giganti’, secondo l’Independent, sarebbe confinata in una piccola zona dell’Irlanda del Nord che gli studiosi preferiscono mantenere segreta proprio per proteggere chi affetto dall’anomalia.

Charles Byrne (1761 – 1783) il ‘gigante irlandese’, è morto a 22 anni di alcool, ma grazie al suo Dna sono potuti continuare gli studi sul gigantismo. Da tali studi sul fenomeno, è emerso che Byrne ed alcune famiglie dell’Ulster hanno in comune un gene mutante apparso 1.500 anni fa.

Quattro famiglie che stono state identificate, hanno nelle varie generazioni, dato origine a sei ‘giganti’ di oltre due metri di altezza. Questo gene mutante fa sì che i bambini vengano colpiti da un tumore benigno dell’ipofisi che produce un’eccessiva quantità di ormone della crescita.

 

Gigantismo

Il Gigantismo è causato da un’eccessiva esposizione dell’organismo all’ormone somatotropo, meglio noto come ormone della crescita, che si verifica durante l’età pre-puberale. Un malato di gigantismo nell’età adulta può raggiungere anche altezze comprese tra i 240–274 cm, mantenendo però corrette le proporzioni corporee, a differenza dell’acromegalia, in cui l’ipersecrezione dell’ormone della crescita inizia dopo l’età puberale, e le proporzioni non sono più rispettate.

La crescita staturale di un individuo è infatti permessa dalla presenza di piccole regioni, dette placche epifisarie, interposte tra l’epifisi e la diafisi delle ossa lunghe. Questi nuclei di accrescimento osseo producono cellule in grado di dividersi continuamente e sintetizzare nuovo tessuto cartilagineo, che viene poi ossificato a poco a poco. La saldatura delle placche epifisarie, che normalmente avviene intorno al 18º-20º anno di età, sancisce il definitivo arresto della crescita in altezza.

 

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