Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New clues to the genetic of epilepsy

05.01.2005


Two specific areas in chromosome 7 and chromosome 16 have been associated with photosensitivity, an epilepsy-related trait, by a team of European scientists in the January issue of Human Molecular Genetics. Photosensitivity or photoparoxysmal response (PPR) is associated with the most common epilepsy of genetic origin –Idiopathic Generalised Epilepsy (IGE) - and comprehension of the genetics behind it is important to a better understanding of IGE and epilepsy in general.

Epilepsies are a group of brain disorders characterised by recurrent seizures. The disease results from the fact that the neurons (brain cells) of epileptic patients seem to be incapable of properly conduct the nervous signal. This inability leads to excessive and disordered electric activity in the patients’ brain, which can lead to seizures. Seizures trigger involuntary muscle movements and can have a multitude of effects such as altered sensations, changes in awareness, behaviour, movement and/or body function.

Epilepsy affects about 2% of the world population and can create problems in the simplest of everyday activities such as driving, attending a job, school or even staying home alone what has important economic implications for society. Additionally, due to the unpredictability of the seizures that creates a life of constant fear for patients, there is also a extremely high social toll for both patients and their families.



Although treatments, including surgery, are available, for about a third of patients seizures cannot be controlled and new more effective therapies are necessary. In fact, a problem with epilepsy is its multiple causes and consequently the need for different treatments. Disease causes range from abnormal brain development, drug and alcohol abuse, tumours, head trauma or strokes to, in about half of the total cases, defective genes. In this last case, recent advances in the understanding of the human genome have helped to identify genes that can, when altered, lead to disruption of neurons’ normal function and so predispose to epilepsy but much is still unknown.

One example is IGE that accounts for about 40% of all epilepsy cases, being the most common variant of the disease. IGE has a complex genetic origin with several interacting predisposing genes and although investigations on its genetic causes have been done, so far, all studies have proven inconclusive.

Dalila Pinto, Kasteleijn-Nolst Trenité, Bobby P.C. Koeleman and colleagues at University Medical Centre Utrecht and the Epilepsy Institute of the Netherlands in the Netherlands, the Hôpitaux Universitaires de Strasbourg in France and the Institute of Biomedical Sciences Abel Salazar in Portugal decided to approach the study of IGE’s genetic complexity in a different form. The team of researchers choose to study only one of the traits associated and believed to contribute to the disease –photosensitivity – and from this information start constructing the big genetic picture behind IGE.

Photosensitivity or photoparoxysmal response (PPR) is an abnormal visual sensitivity of the brain in response to flickering lights, which, from families and twin studies, is believed to have a genetic origin. PPR appears associated with many idiopathic (of genetic origin) epilepsies, and, at least with IGE, is suspected to be involved in the disease’s mechanism. PPR has the additional advantage of be monitored with an electrocardiogram machine in clinic and so sufferers are objectively identified without the need to rely on clinical symptoms.

Pinto, Trenité, Koeleman and colleagues, using a technique called “genome wide linkage scan” studied sixteen Dutch and French families suffering from a PPR-associated epilepsy, in a total of one hundred and five individuals. The technique consists in the use of several markers, with known localisation in the DNA, to identify/locate the areas in the chromosomes which are conserved among patients and so probably contain the gene or genes associated with disease.

The team of researchers found that chromosome 7 band (or region) 32 and chromosome 16 band 13 were associated with PPR. This result suggests that genes involved in photosensitivity, and consequently with susceptibility to PPR-associated epilepsies, are localised in these areas. Further research is now on the way in order to precisely identify these genes.

Pinto, Trenité, Koeleman and colleagues’ work is very important; by contributing for the identification of susceptibility genes for an epilepsy-related trait their research helps to understand the mechanisms behind epilepsy and ultimately to find better treatment strategies, helping patients to have a better quality of life and maybe one day have the possibility of cure.

Piece researched and written by: Catarina Amorim
(catarina.amorim@linacre.ox.ac.uk)

Catarina Amorim | alfa
Further information:
http://hmg.oupjournals.org/cgi/content/abstract/14/1/171?ct

More articles from Life Sciences:

nachricht Zebrafish's near 360 degree UV-vision knocks stripes off Google Street View
22.06.2018 | University of Sussex

nachricht New cellular pathway helps explain how inflammation leads to artery disease
22.06.2018 | Cedars-Sinai Medical Center

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Superconducting vortices quantize ordinary metal

Russian researchers together with their French colleagues discovered that a genuine feature of superconductors -- quantum Abrikosov vortices of supercurrent -- can also exist in an ordinary nonsuperconducting metal put into contact with a superconductor. The observation of these vortices provides direct evidence of induced quantum coherence. The pioneering experimental observation was supported by a first-ever numerical model that describes the induced vortices in finer detail.

These fundamental results, published in the journal Nature Communications, enable a better understanding and description of the processes occurring at the...

Im Focus: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

Rapid water formation in diffuse interstellar clouds

25.06.2018 | Physics and Astronomy

Using tree-fall patterns to calculate tornado wind speed

25.06.2018 | Earth Sciences

'Stealth' material hides hot objects from infrared eyes

25.06.2018 | Power and Electrical Engineering

VideoLinks
Science & Research
Overview of more VideoLinks >>>