Features | Partner Sites | Information | LinkXpress
Sign In
Demo Company

Genetic Clues to Epilepsy Discovered

By BiotechDaily International staff writers
Posted on 29 Aug 2013
Image: Positron emission tomography of epileptic brain (Photo courtesy of Seattle Children’s Hospital).
Image: Positron emission tomography of epileptic brain (Photo courtesy of Seattle Children’s Hospital).
A breakthrough for neurological disorders was reached with innovative genetic technology when two genes were discovered linked to severe forms of childhood epilepsy.

Exome sequencing was used to detect the mutations in DNA sequences that could cause two forms of childhood epilepsy: infantile spasms and Lennox-Gastaut Syndrome—diseases that affect more than two million people in the USA.

A team of scientists led by those at Duke University Medical Center (Durham, NC, USA) screened for de novo mutations in patients with two classical epileptic encephalopathies, 149 who had infantile spasms, and 115 diagnosed with Lennox-Gastaut syndrome. The exome sequences of 264 epileptic children were compared with those of the parents, who did not have the neurological disease. To identify any disease-causing mutations, the investigators analyzed the sequences using various statistical tools.

The results of the study revealed disease-causing mutations in six genes, four of which had been uncovered before in previous studies, but two were discovered for the first time. Among these were the gene encoding for gamma-aminobutyric acid receptor subunit beta-3 (GABRB3), with de novo mutations in four patients, and the gene encoding for the asparagine-linked glycosylation 13 homolog (ALG13), with the same de novo mutation in two patients. Both genes show clear statistical evidence of association with epileptic encephalopathy.

The scientists say that by using novel genetic analysis techniques they also revealed that epilepsy-causing mutations in humans are concentrated in genes that are intolerant or highly sensitive to changes in their DNA sequence. They add that the genes are so sensitive that the smallest change in their DNA sequence means the gene may not work, which could lead to death or severe forms of diseases. Results showed that up to 90 genes could carry epilepsy-causing mutations, and many of these have been previously linked to other neurological disorders, such as autism.

David B. Goldstein, PhD, a study leader, said, “It appears that the time for using this genome approach to understand complex neurological disorders has arrived. One of the most encouraging aspects of this study is that we're beginning to see how best to interpret and make effective use of exome sequence data. We anticipate that further studies will identify many new disease-causing genes and we intend to develop a watch list of the genes which summarizes their clinical characteristics in way that will be helpful for doctors, patients and other scientists." The study was published on August 11, 2013, in the journal Nature.

Related Links:
Duke University Medical Center



view channel
Image: representation of a protein (blue), which contains three zinc fingers in complex with DNA (orange). The coordinating amino acid residues and zinc ions (green) are highlighted (Photo courtesy of Wikimedia Commons).

Molecular Sensors Generated by Synthetic Biology Technique Using Intein-Based Protein Splicing

Biotech researchers have used intein-based protein splicing to generate synthetic protein components that are able to detect specific DNA sequences and subsequently trigger a desired intracellular response... Read more

Drug Discovery

view channel
Image: Endoscopic image of a bowel section known as the sigmoid colon afflicted with ulcerative colitis. The internal surface of the colon is blotchy and broken in places (Photo courtesy of Wikimedia Commons).

Orally Delivered Curcumin-Loaded Microparticles Effectively Treat Mouse Model of Ulcerative Colitis

Microparticles (MPs) loaded with the efficient anti-inflammatory agent curcumin were found to effectively treat a mouse model of ulcerative colitis. Ulcerative colitis is a chronic relapsing disease... Read more

Lab Technologies

view channel

New Genomic Research Kit Simplifies Exome Studies

An exciting new tool is now available for biotech researchers working in the field of genomic analysis. The human exome is critical to our genetic make-up and is generally accepted as having the greatest influence on how the genetic blueprint is utilized. The exome is defined as all coding exons in the genome and is... Read more


view channel

Collaboration Agreement to Boost Discovery of Fully Human Antibodies for Therapeutic Use

The discovery of fully human antibodies for therapeutic use will be boosted by a recently announced collaboration between a major university research center and a dynamic biopharmaceutical development company. Regeneron Pharmaceuticals, Inc. (Tarrytown, New York, USA) and The Experimental Therapeutics Institute (ETI)... Read more


17 Oct 2015 - 21 Oct 2015
25 Oct 2015 - 29 Oct 2015
16 Nov 2015 - 19 Nov 2015
Copyright © 2000-2015 Globetech Media. All rights reserved.