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Cause geniche dell’infertilità maschile

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La genetica nell’infertilità maschile

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Estratto

Le malattie genetiche sono dovute a geni mutati. Le malattie mendeliane conosciute sono più di quattromila; il numero elevato si spiega considerando che il genoma umano possiede non meno di quarantamila geni attivi; una modificazione (mutazione) che ne alteri la funzione o la struttura (spesso per sostituzione o perdita di una o più basi) può occorrere in ognuno di essi. Le mutazioni sono eventi spontanei, ma possono anche essere indotte, ad esempio, in conseguenza a esposizione a particelle ionizzanti (raggi X). Le mutazioni sono i fattori che assicurano la variabilità delle specie viventi, necessaria a salvaguardare la capacità di adattamento all’ambiente ehe muta. Sono quindi uno dei principali meccanismi dell’evoluzione. Assieme alle mutazioni vantaggiose di cui non ci accorgiamo, avvengono anche mutazioni svantaggiose che inducono malattie o malformazioni congenite, che la selezione naturale tende ad eliminare dal pool genico. Un numero significativo di mutazioni sono letali e, se provocano un arresto di sviluppo dell’embrione in epoca precocissima della gestazione, è difficile o impossibile averne documentazione. Per indurre un difetto grave di una funzione o di una struttura è sufficiente talvolta la sostituzione o la mancanza anche di una sola coppia di basi.

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© 2008 Springer-Verlag Italia

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(2008). Cause geniche dell’infertilità maschile. In: La genetica nell’infertilità maschile. Springer, Milano. https://doi.org/10.1007/978-88-470-0777-2_4

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