The Centre reveals new gene involved in epilepsy and learning disability


Researchers from the Wellcome Trust Centre for Human Genetics at Oxford University have discovered a gene in mice which is involved in epilepsy and learning disabilities in humans.

The team of scientists, led by Professor Jonathan Flint, noticed that one of the mice they were studying was hyperactive and performed poorly on memory based tasks. They nicknamed this mouse 'Jenna' and examined its DNA. The scientists found that its unusual behaviour was due to change in a gene called alpha tubulin, which makes one of the protein building blocks of cells. This gene is present in almost all species, including sweetcorn, lobsters and roses. Intrigued by Jenna's behaviour, the team decided to compare the alpha tubulin gene sequence to that in humans suffering from lissencephaly. Patients with this disease have a smooth brain, instead of being covered by the usual folds, and suffer from epilepsy and learning disabilities. The team found changes in alpha tubulin in patients with this disease. It is hoped that the discovery will provide further insight into how the brain functions and diseases such as epilepsy.

Professor Flint said: 'Our work shows the value of the mouse as a model for finding genetic alterations in humans, which can lead to serious diseases. This is good example of how basic research can help in the clinic'.

The results of this research have been published in the prestigious journal, Cell.

Keays, D. A. et al (2007). Mutations in a-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell, Vol 128, 45-57.

The Oxford Times 19 January