Featured Research

from universities, journals, and other organizations

Twins provide clue that genetic epilepsy can originate in the embryo

Date:
October 1, 2010
Source:
University of Melbourne
Summary:
An Australian 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.

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 September 30 in the New England Journal of Medicine.

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 identical twins, the study shows that mutation may occur shortly after fertilisation.

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 Epilepsy 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.


Story Source:

The above story is based on materials provided by University of Melbourne. Note: Materials may be edited for content and length.


Journal Reference:

  1. Vadlamudi L, Dibbens Lm, Lawrence Km, Et Al. Timing of De Novo Mutagenesis -- A Twin Study of Sodium-Channel Mutations. N Engl J Med, 2010; 363:1335-1340 [link]

Cite This Page:

University of Melbourne. "Twins provide clue that genetic epilepsy can originate in the embryo." ScienceDaily. ScienceDaily, 1 October 2010. <www.sciencedaily.com/releases/2010/09/100930101541.htm>.
University of Melbourne. (2010, October 1). Twins provide clue that genetic epilepsy can originate in the embryo. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2010/09/100930101541.htm
University of Melbourne. "Twins provide clue that genetic epilepsy can originate in the embryo." ScienceDaily. www.sciencedaily.com/releases/2010/09/100930101541.htm (accessed July 25, 2014).

Share This




More Health & Medicine News

Friday, July 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
Too Few Teens Receiving HPV Vaccination, CDC Says

Too Few Teens Receiving HPV Vaccination, CDC Says

Newsy (July 24, 2014) The Centers for Disease Control and Prevention is blaming doctors for the low number of children being vaccinated for HPV. Video provided by Newsy
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins