Genetic epilepsy can originate in the embryo, study shows

September 30, 2010

A study of identical twins shows that a rare genetic form of epilepsy can be caused by a genetic mutation that occurs in the embryo, and not necessarily passed down from parents.

The study was led by the University of Melbourne and Austin Health and published today in the .

Professor Berkovic, Director of the Comprehensive Epilepsy Program at Austin Health and Epilepsy Research Centre at the University of Melbourne and lead investigator on the study said this is an exciting finding revealing how a mutation in the embryo can cause genetic epilepsy to occur.

“While this study focused on an uncommon form of epilepsy, this finding may have implications for those with other forms of genetic epilepsy, and in fact, other types of genetic disease,” Professor Berkovic said.

While this discovery was made by studying a limited group of people - those who have an identical twin with a particular form of epilepsy known as Dravet’s syndrome - researchers believe it could have wider implications for siblings of people with other genetic diseases that could be caused by genetic mutation in an embryo rather than in the germ (sperm or egg) cells of the parents.

Researchers have previously believed that new mutations for epilepsy and other diseases usually occur in the sperm or egg cells of the parents, but, by using , the study shows that mutation may occur shortly after fertilization.

If a test could be developed in the future to verify that there has been no mutation in the germ cells of the parents, siblings of a child with a disease caused by a genetic mutation could rule out the likelihood of passing it on to their own children.

“This really shows the value of studying identical twins to make genetic discoveries that are otherwise effectively invisible to scientists when studying other members of the population,” Professor Berkovic said.

The study was conducted in collaboration with the Research Program, SA, Pathology at Women’s and Children’s Hospital, North Adelaide, SA, and the National Center for Adult Stem Cell Research, Griffith University QLD.

Related Stories

Recommended for you

Long-lasting blood vessel repair in animals via stem cells

October 23, 2017
Stem cell researchers at Emory University School of Medicine have made an advance toward having a long-lasting "repair caulk" for blood vessels. The research could form the basis of a treatment for peripheral artery disease, ...

Synthetic hydrogels deliver cells to repair intestinal injuries

October 23, 2017
By combining engineered polymeric materials known as hydrogels with complex intestinal tissue known as organoids - made from human pluripotent stem cells - researchers have taken an important step toward creating a new technology ...

Study reveals connection between microbiome and autoimmune disorders

October 23, 2017
Many people associate the word "bacteria" with something dirty and disgusting. Dr. Pere Santamaria disagrees. Called the microbiome, the bacteria in our bodies have all kinds of positive effects on our health, Santamaria ...

Engineered protein treatment found to reduce obesity in mice, rats and primates

October 19, 2017
(Medical Xpress)—A team of researchers with pharmaceutical company Amgen Inc. report that an engineered version of a protein naturally found in the body caused test mice, rats and cynomolgus monkeys to lose weight. In their ...

New procedure enables cultivation of human brain sections in the petri dish

October 19, 2017
Researchers at the University of Tübingen have become the first to keep human brain tissue alive outside the body for several weeks. The researchers, headed by Dr. Niklas Schwarz, Dr. Henner Koch and Dr. Thomas Wuttke at ...

Cancer drug found to offer promising results in treating sepsis in test mice

October 19, 2017
(Medical Xpress)—A combined team of researchers from China and the U.S. has found that a drug commonly used to treat lung cancer in humans offers a degree of protection against sepsis in test mice. In their paper published ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.