Epilepsy gene identified in mice

Jan 17, 2007
Jenna the mouse.
Jenna the mouse.

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 examined the DNA of the mouse, which was named Jenna, and found that its unusual behaviour was due to changes in a gene called alpha tubulin, which makes one of the protein building-blocks of cells and is present in almost all species, including sweetcorn, lobsters and roses.

Intrigued by Jenna’s behaviour, the team decided to compare the particular alpha tubulin gene sequence to that in humans suffering from lissencephaly, a disease in which patients suffer from epilepsy and learning disabilities. They found changes in alpha tubulin in patients with this disease.

The findings were published in the journal Cell www.cell.com. It is hoped that the discovery will provide further insight into how the brain functions and into 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 a good example of how basic research can help in the clinic’.

Source: University of Oxford

Explore further: Growing a blood vessel in a week

add to favorites email to friend print save as pdf

Related Stories

Image: Galactic wheel of life shines in infrared

1 hour ago

It might look like a spoked wheel or even a "Chakram" weapon wielded by warriors like "Xena," from the fictional TV show, but this ringed galaxy is actually a vast place of stellar life. A newly released ...

Sex-loving, meat-eating reptiles have shorter lives

1 hour ago

The health risks and benefits of vegetarianism have long been discussed in relation to the human diet, but newly published research reveals that it's definitely of benefit to the reptile population. That, ...

Ericsson profit down 10 pct despite higher sales

1 hour ago

Wireless equipment maker Ericsson says its third-quarter earnings slumped 10 percent despite higher sales due to increased operating costs and negative effects from currency hedging.

Recommended for you

Growing a blood vessel in a week

22 hours ago

The technology for creating new tissues from stem cells has taken a giant leap forward. Three tablespoons of blood are all that is needed to grow a brand new blood vessel in just seven days. This is shown ...

Testing time for stem cells

Oct 24, 2014

DefiniGEN is one of the first commercial opportunities to arise from Cambridge's expertise in stem cell research. Here, we look at some of the fundamental research that enables it to supply liver and pancreatic ...

Team finds key signaling pathway in cause of preeclampsia

Oct 23, 2014

A team of researchers led by a Wayne State University School of Medicine associate professor of obstetrics and gynecology has published findings that provide novel insight into the cause of preeclampsia, the leading cause ...

Rapid test to diagnose severe sepsis

Oct 23, 2014

A new test, developed by University of British Columbia researchers, could help physicians predict within an hour if a patient will develop severe sepsis so they can begin treatment immediately.

User comments : 0