Step forward in research into new treatments for brain edema

March 19, 2012, IDIBELL-Bellvitge Biomedical Research Institute

Cerebral edemas are accumulations of fluid into the intra- or extracellular spaces of the brain and it can result from several factors such as stroke or head trauma, among others.

Cerebral edema is a serious problem in neurology. While in other organs swelling does not lead to an urgent situation, in the it leads to coma and death. Although there are therapeutic solutions such as surgery, more effective treatments are needed.

Megalencephalic with subcortical cysts (MLC) is a rare type of leukodystrophy (affects the white matter) of genetic origin. MLC can be considered as a model of chronic edema, as patients suffering from birth a high accumulation of water.

A study of the pathophysiology of this rare disease has uncovered one mechanism that destabilizes the homeostatic balance of brain cells causing edema. This study is published in the latest issue of the journal Neuron. The journal accompanies the paper with a commentary of the editor and an explanatory video on its website.

Researchers from IDIBELL, the University of Barcelona (UB) and CIBERER (Spanish Network Research Centre on ) have found that one function of the protein GlialCAM, which is genetically altered in patients with MLC, is to regulate the activity of the channel that allows the passage of between to regulate ion and fluid balance.

When this protein is lacked, the channel is not working properly and the fluid builds up in the brain glial cells forming edema.

Raul Estevez, director of this work, and Virginia Nunes, a partner of the study, believe that the importance of this finding is twofold. "On one hand", explains Virginia Nunes, "it allows us to better understand the pathophysiology of this disease minority" and "on the other hand", Raul Estevez continues, "we have identified a mechanism that can open doors to treatments based on the activation of this channel to restore homeostatic balance and perhaps treat brain edema in general."

Both researchers agree to say that this case demonstrates that the investigation of a rare disease that affects a small proportion of the population can serve as a model to identify mechanisms to think of new treatments for common diseases.

MLC Leukodistophy

Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy that appears during the first year of life, characterized by macrocephaly (oversized head). A few years later, it appears a slow neurological deterioration with ataxia (lack of motor coordination) and spasms. Magnetic resonance techniques revealed inflammation of the cerebral and subcortical cysts, particularly in the anterior temporal regions.

In the 75% of MLC patients it has been identified mutations in the gene MLC1, which cause the disease. Virginia Nunes and Raul Estevez have recently identified a second gene causing MLC, named GlialCAM.

In the present study they have been identified precisely a GlialCAM protein as an ion channel subunit chloride that allows its entering and exiting the brain so that the cells can regulate the homeostatic balance.

Explore further: Hope for infant brain injuries like cerebral palsy as well as multiple sclerosis

More information: Jeworutzki E., López-Hernández T, Capdevila-Nortes X., Sirisi S., Bengtsson L., Montolio M., Zifarelli G., Arnedo T., Müller C., Schulte U., Nunes V., Martínez A., Jentsch T., Gasull X., Pusch M. And Estévez R. GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl–Channel Auxiliary Subunit. Neuron 73, 951-961, March 8, 2012. Doi 10.1016/j.neuron.2011.12.039

Maduke M. And Reimer R. Biochemistry to the rescue: a ClC-2 auxiliary subunit provides a tangible link to leukodistrophy. Neuron 73, 855-877, March 8, 2012. Doi 10.1016j.neuron.2012.02.012

Related Stories

Hope for infant brain injuries like cerebral palsy as well as multiple sclerosis

June 27, 2011
(Medical Xpress) -- In a new study published in Nature Neuroscience, a team of researchers revealed the discovery of a key protein necessary for nerve repair and could lead to the development of a treatment for brain injuries ...

Recommended for you

Animal study connects fear behavior, rhythmic breathing, brain smell center

April 20, 2018
"Take a deep breath" is the mantra of every anxiety-reducing advice list ever written. And for good reason. There's increasing physiological evidence connecting breathing patterns with the brain regions that control mood ...

Mechanism behind neuron death in motor neurone disease and frontotemporal dementia discovered

April 20, 2018
Scientists have identified the molecular mechanism that leads to the death of neurons in amyotrophic lateral sclerosis (also known as ALS or motor neurone disease) and a common form of frontotemporal dementia.

When there's an audience, people's performance improves

April 20, 2018
Often, people think performing in front of others will make them mess up, but a new study led by a Johns Hopkins University neuroscientist found the opposite: being watched makes people do better.

Signaling between neuron types found to instigate morphological changes during early neocortex development

April 20, 2018
A team of researchers from several institutions in Japan has found that developing neocortex neurons in mammals undergo a morphological transition from a multipolar shape to a bipolar shape due at least partially to signaling ...

MRI technique detects spinal cord changes in MS patients

April 20, 2018
A Vanderbilt University Medical Center-led research team has shown that magnetic resonance imaging (MRI) can detect changes in resting-state spinal cord function in patients with multiple sclerosis (MS).

Gene variant increases empathy-driven fear in mice

April 20, 2018
Researchers at the Center for Cognition and Sociality, within the Institute for Basic Science (IBS), have just published as study in Neuron reporting a genetic variant that controls and increases empathy-driven fear in mice. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.