An international team of researchers, led by MND Association-funded researchers based at King’s College London, have identified mistakes in the TUBA4A gene as a new cause of the rare inherited form of MND.
This new MND-causing gene causes the cell’s structure, or skeleton, to break down – resulting in the cell being unable to transport molecules from one end of the cell to the other.
TUBA4A falls off the track
The TUBA4A gene is responsible for the Tubulin, alpha 4A protein and the researchers have found that the genetic mistake in the TUBA4A gene causes the microtubule network to breakdown in MND.
The microtubule network is a bit like a railway system. Normally, the healthy TUBA4A protein acts like a train, allowing the cell to transport molecules along this railway track to where they’re needed. As well as transporting molecules around the cell, the microtubule also acts as a skeleton within it (known as the ‘cytoskeleton’). Read the rest of this entry »