News

Home  >  News > A team of the UB identifies the function of a gene involved in the formation...

A team of the UB identifies the function of a gene involved in the formation of oedemas in the brain

The mutation of the gene GlialCAM modifies the localization of the chloridechannel in the cells and also alters the function. A) ClC2 localization in cells.

The mutation of the gene GlialCAM modifies the localization of the chloridechannel in the cells and also alters the function. A) ClC2 localization in cells.

B) ClC2 localization modified by gene GlialCAM.

B) ClC2 localization modified by gene GlialCAM.

19/03/2012

Recerca

The accumulation of fluids in the brain, what is known as an oedema, is a common phenomenon that may be produced as a result of a knock, a heart attack or by developing a cerebral cancer. Moreover, those persons affected by a rare illness called megalencephalicleucoencephalopathy with subcortical cysts (MLC) may also suffer from oedemas. In these cases, the liquid accumulation in the brain is caused by a dysfunction of genetic origin related with the glial cells, which are responsible for maintaining the equilibrium of fluids in the brain because of the production of ion fluxes.

 

Now, a teamwork headed by Raúl Estévez, a researcher from the University of Barcelona, have established the relationship between the gene GlialCAM —one of the genes whose mutation causes MLC— and the chloridechannel ClC-2, involved in the equilibrium of fluids in the brain. The article of this research has been published in the last issue of the magazine Neuron, and has been commented in a review article and in a summary video also published by this magazine.
 
The study shows that the mutation of the gene GlialCAM modifies the localization of the chloridechannel in the cells and also alters the function, which causes water accumulation. According to Estévez, from the Department of Physiological Sciences II of the Faculty of Medicine of the UB, member of the HUBc (Health University of Barcelona Campus), “this result will enable the study of new therapies for patients with MLC leukodystrophy which will be able to be extended to other kinds of oedemas”. Oedema is an important biomedical problem, therefore new strategies which eliminate it should be found. “Working with this rare illness may be useful for finding solutions to a problem that also appears in other more usual illnesses”, states Estévez.
 
The origin of MLC, which has associated symptoms such as epilepsy, mental retardation and autism in some cases, is a leukodystrophy, that is, a degeneration of the myelin that surrounds the neurons (a membrane rich in lipids and cholesterol that acts as an insulator, similarly to the plastic that covers the copper of a cable). From the physiological point of view, myelin helps the transmission of the electrical signal, caused by the ions movement, to be faster. When myelin degenerates, the process of transmission of the signal fails and water accumulates in the brain producing vacuoles.
 
 
Article reference
Jeworutzki, E.; López-Hernández, T.; Capdevila-Nortes, X.; Sirisi, S.; Bengtsson, L.; Montolio, M.; Zifarelli,G.; Arnedo, T.; Muller, C. S.; Schulte,U.; Nunes, V.; Martínez, A.; Jentsch, T. J.; Gasull, X.; Pusch, M.; Estévez, R.  «GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl channel auxiliary subunit».Neuron, March 2012, 73, pages 951-961.DOI 10.1016/j.neuron.2011.12.039
http://www.sciencedirect.com/science/article/pii/S0896627312000918
 
Related article
Merritt C.; Maduke, R.; Reimer, J. «Biochemistry to the rescue: A ClC-2 auxiliary subunit provides a tangible link to leukodystrophy». Neuron, March 2012, 73, pages 855-857.
 
Summary video 

 

 

Share this at:
| More |
  • Follow us:
  • Button to access University of Barcelona's Facebook profile
  • Button to access University of Barcelona's Twitter profile
  • ??? peu.google.alt ???
  • Button to access University of Barcelona's Youtube profile
  • Button to access University of Barcelona's RSS
Member of: Two Campuses of International Excellence logo del leru - League of European Research Universities logo del bkc - campus excel·lència logo del health universitat de barcelona campus

© Universitat de Barcelona