In 1604, conqueror Felipe Monje Merino arrived in the New World seeking the prevailing American dream, but after repeated military failures settled in Cartago, Costa Rica, marrying Francisca López with whom he procreated two children. It is not known whether either was deaf, but we know for certain that six generation later three descendants bearing his surname (now changed to Monge) became deaf, after being born with normal audition. Late onset deafness in this family, that begins with low frequency loss, is a dominant genetic mutation that results from a single base mutation, a change of a G for a T.
This book describes the hunt for the mutation that causes deafness, and the discovery of this single-letter change that affects a gene named human diaphanous 1. Diaphanous is one of three similar genes that help regulate the actin cytoskeleton of the hair cells in the organ of Corti, the actual sensors for sound vibrations. The research was the result of a sustained collaboration of the Monge family with many scientists from Costa Rica and the USA.
|Año||1 ed., 2017|
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