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Influenza dei fattori genetici nella patogenesi del Morbo di Basedow: a che punto siamo?

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Benché il principale meccanismo patogenetico del Morbo di Basedow (MB) sia da molto tempo conosciuto, la sua eziologia è nota solo in parte. L’ipotesi più accreditata prevede che la malattia sia il risultato di un complesso interplay tra fattori genetici e fattori non genetici, principalmente ambientali. Un importante ruolo dei fattori genetici è dimostrato dai numerosi studi osservazionali su gemelli e sulle famiglie dei soggetti affetti. I principali geni fino ad ora identificati come possibili responsabili del MB sono il complesso HLA, il CD40, il CTLA-4, la tirosina fosfatasi-22, l’ Fc receptor-like 3 e la tireoglobulina. Nessuno di questi, tuttavia, è il principale o il solo responsabile della malattia. Tutti i geni coinvolti hanno una bassa penetranza, e lo sviluppo del complesso fenotipo del MB richiede l’intervento di fattori non genetici, tra i quali infezioni, stress psichico, sesso, fumo, traumi della tiroide e stato nutrizionale.

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Conflitto di interesse

Gli autori Marenza Leo, Francesca Menconi e Michele Marinò dichiarano di non avere conflitti di interessi.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

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Authors and Affiliations

  1. Unità Operativa di Endocrinologia I, Azienda Ospedaliero Universitaria Pisana, Università di Pisa, Pisa, Italia

    Marenza Leo, Francesca Menconi & Michele Marinò

  2. U.O. Endocrinologia I, Ospedale Cisanello, Via Paradisa 2, 56124, Pisa, Italia

    Michele Marinò

Authors
  1. Marenza Leo
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  2. Francesca Menconi
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  3. Michele Marinò
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Corresponding author

Correspondence to Michele Marinò.

Additional information

Proposta da Michele Marinò.

Materiale elettronico supplementare

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Leo, M., Menconi, F. & Marinò, M. Influenza dei fattori genetici nella patogenesi del Morbo di Basedow: a che punto siamo?. L'Endocrinologo 15, 72–76 (2014). https://doi.org/10.1007/s40619-014-0023-z

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