Thursday, November 20, 2014

Scientists discover new Gene for Devasting form of Epilepsy

In the journal Nature Genetics, An international team with members from University of Finland and the Universities of Melbourne and South America reported their findings on a new genetic cause of progressive myoclonus epilepsy; it is one of the most devastating forms of epilepsy that emerges in early childhood and can result in early death. Progressive myoclonus epilepsy (PME) are very serve and rare form of epilepsy and can arise from hereditary metabolic disorders. The main symptoms that happen are epileptic seizures, debilitating involuntary muscle twitching, muscle rigidity, unsteadiness, and mental deterioration.

                                                 brain scans

For the research, the team accepted 84 patients with PME of unknown causes and sequenced their DNA's to pin point potential genetic causes of the disorder. The team found a unknown mutation in the potassium ion channel gene called KCNC1. It was present in 11 out of 84 patients and another two patients in a secondary cohort. It is said to be not inherited from the patients biological parents. The cells build-up concentration of ion inside which creates voltage difference. The researchers suggest the effect of the mutation is to reduce the inhibitory signals' making the people affected susceptible to epileptic seizures and myoclonus starting in childhood. Professor Lehesjoki says because the mutation occurs in will-known ion channel, there is hope of developing therapy that can target this. There are medications like anti-epileptic drugs in the market that target other similar ion channels. They are also planning on future research being done in this field. I think this is a great finding because it can lead to cures for PME.    

http://www.medicalnewstoday.com/articles/285582.php  
 

1 comment:

  1. Identifying this gene and eventually learning more and more about it hopefully can lead to scientists finding and developing treatments for PME.

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