The genes in our cells encode for proteins, and the VRK1gene encodes for the VRK1 protein.
Proteins, including VRK1, are made of building blocks called amino acids – each protein is essentially a unique chain of these building blocks. Most VRK1mutations result in substitution of one amino acid in the protein for another amino acid. However these substitutions impair the ability of VRK1 to function in a normal manner, and VRK1-associated disease is thought to be caused by malfunction of the VRK1 protein. Indeed, the more severe VRK1mutations prevent the VRK1 protein from being formed at all, or lead to a shortened protein. The VRK1mutation found in Ashkenazi Jews is an example of such a mutation.
VRK1 is obviously very important for normal function of the nervous system, both for normal brain development and for function and maintenance of motor neurons. Current research attempts to understand how loss of VRK1 function affects the nervous system.
VRK1