Boxing day is here, there’s still some leftover turkey but let’s not forget… it’s the second day of Christmas!
“On the second day of Christmas MND research gives to you… TWO new inherited MND genes”
2014 saw the discovery of two inherited MND genes, the first being MATR3 in March and the second being TUBA4A in October. We will be discussing TUBA4A in a later blog post, but for now, here’s what we know about MATR3:
The MATR3 inherited MND gene discovery has provided us with further evidence that abnormal RNA processing is involved in MND.
The MATR3 protein, which is produced from the MATR3 gene, is commonly found in the nucleus or ‘control centre’ of the cell and is involved in the processing of RNA (the cell’s copy of DNA that is responsible for making new proteins). RNA processing has been previously associated with other inherited MND gene mutations (eg TARDBP and FUS). The MATR3 mutation also affects this process, adding more evidence to the role of abnormal RNA processing in MND.