| Institution: | (1) Neurogenetic Unit, Department of Molecular Medicine and Surgery, CMM, Karolinska Hospital, Karolinska Institutet, 171 76 Stockholm, Sweden;(2) Nobel Institute for Neurophysiology, Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden;(3) The Ludwig Institute for Cancer Research, Stockholm Branch, Stockholm, Sweden |
| Abstract: | Background The megencephaly mouse, mceph/mceph, is epileptic and displays a dramatically increased brain volume and neuronal count. The responsible mutation was recently
revealed to be an eleven base pair deletion, leading to a frame shift, in the gene encoding the potassium channel Kv1.1. The
predicted MCEPH protein is truncated at amino acid 230 out of 495. Truncated proteins are usually not expressed since nonsense
mRNAs are most often degraded. However, high Kv1.1 mRNA levels in mceph/mceph brain indicated that it escaped this control mechanism. Therefore, we hypothesized that the truncated Kv1.1 would be expressed
and dysregulate other Kv1 subunits in the mceph/mceph mice. |
