New genetic deafness syndrome identified

Ten years ago, scientists seeking to understand how a certain type of feature on a cell called an L-type calcium channel worked created a knockout mouse missing both copies of the CACNA1D gene. The CACNA1D gene makes a protein that lets calcium flow into a cell, transmitting important instructions from other cells. The knockout mice lived a normal life span, but their hearts beat slowly and arrhythmically. They were also completely deaf. Researchers have now identified a mutation on the CACNA1D gene affecting two families in Pakistan.

Read the whole article on Science Daily

More from Science Daily