Health Colombia , Bogotá D.C., Tuesday, September 06 of 2016, 11:09

Genetic discovery would explain aggravating of refractory epilepsy

Loss or duplication of chromosomes in patients with epilepsy was discovered by a group of a Universidad Nacional de Colombia (UNal) researchers offers new clues to understand the disease

UN/DICYT With these findings they consider that close to 15% of the patients with refractory epilepsy may have losses or gains of genetic material which will enable explaining its appearance or aggravating of the disease.


Refractoriness which affects close to 30% of epilepsy patients is, despite treatment with anti-epileptic drugs, that most patients require poly-treatment, in other words, more than one drug to control crises.


During the exploration of the chromosome map, UNal geneticists established duplication of a locus (fixed position) on the short arm of chromosome one and a loss of a locus in chromosome X. This type of phenomenon is known as genome rearrangement.


However it is one more factor to consider and treat as refractory epilepsy is linked to other factors such as brain parenchyma structure or inclusively pharmacodynamics and pharmacokinetics. Nevertheless in searching for chromosome, genome and genetic factors, the Neurogenetics Group discovered the clue.


The research project coordinated by UNal Genetics Professor Harvey Velasco worked with 19 youngsters with epilepsy from the Military and Misericordia Hospitals in Bogotá.


Although the amount of cases is reduced the sample is valuable given the disorder and the fact that it was strictly chosen because it included the entire pediatric spectrum (children, adolescents and youngsters).


Epilepsy is characterized by essentially recurrent convulsions. According to the World Health Organization (WHO) it affects close to 50 million people around the world (equivalent to the total Colombian population). According to the Colombian Neurology Association prevalence of epilepsy is 11.3 patients for every 1000 inhabitants.


Genetic characterization linked to epilepsy will be showcased by UNal at the Fourteenth Colombian Congress on Human Genetics which will take place in Bucaramanga, along with other 6 research projects of master’s thesis projects related to neurogenetics, hereditary cancer and complex diseases.


Two of these projects are related to genetic discoveries on 2 other diseases such as the Phelan-McDermid syndrome, an unusual pathology which occurs once for every 50,000 inhabitants; in Colombia there have been cases of macrocrania (large size of the cranium) which is most common than in other locations.


Furthermore, they will also show results of a research project on the Apert Syndrome (premature fusion of certain skull bones), where genes become activated or inactivated when the cells of these patients were submitted to a special treatment.