Featured Research

from universities, journals, and other organizations

Unraveling Batten disease

Date:
November 5, 2011
Source:
Weizmann Institute of Science
Summary:
Scientists reveal the actions of a gene implicated in Batten disease, a rare, degenerative childhood disorder.

Waste management is a big issue anywhere, but at the cellular level it can be a matter of life and death. A Weizmann Institute study, published in the Journal of Cell Biology, has revealed what causes a molecular waste container in the cell to overflow in Batten disease, a rare but fatal neurodegenerative disorder that begins in childhood. The findings may form the basis for a therapy for this disorder.

In Batten disease, an insoluble yellow pigment accumulates in the brain's neurons, causing these cells to degenerate and ultimately die. Patients gradually become disabled, losing their vision and motor skills and suffering mental impairment; they rarely survive beyond their early twenties. It's been known for a while that the disorder is caused by a mutation in the gene referred to as CLN3, but the role of this gene in the cell was unknown. This role has now been discovered in the Weizmann Institute study, explaining the molecular dysfunction in Batten disease.

The research was conducted in the laboratory of Prof. Jeffrey Gerst of the Molecular Genetics Department by Rachel Kama and postdoctoral fellow Dr. Vydehi Kanneganti, in collaboration with Prof. Christian Ungermann of the University of Osnabrueck in Germany. All the studies were performed in yeast: The yeast equivalent of the mammalian CLN3 gene has been conserved almost intact in the course of the evolution, making them ideal models for study. In fact, so similar are the yeast and the mammalian genes that when the researchers replaced a missing copy of the yeast gene with a working copy of mammalian CLN3, normal functioning of the yeast cell was restored.

The experiments showed that the yeast equivalent of CLN3 is involved in moving proteins about the cell -- the scientific term is "protein trafficking." The gene activates an enzyme of the kinase family, which, in turn, launches a series of molecular events regulating the trafficking. When the yeast CLN3 is mutated, this trafficking is disrupted. As a result, certain proteins accumulate abnormally in the lysosome, the cell's waste-recycling machine, instead of being transported to another destination. At some point the lysosome is filled beyond capacity; it then interferes with molecular signaling and other vital processes in the neuron, eventually killing the cell.

A great deal of research must still be performed before this finding benefits humans, but the clarification of the CLN3 function is precisely what might help develop a new therapy. Replacing the defective CLN3 in all the brain's neurons is a daunting challenge, but replacing its function -- for example, by activating the relevant kinase by means of a drug -- should be much more feasible.


Story Source:

The above story is based on materials provided by Weizmann Institute of Science. Note: Materials may be edited for content and length.


Journal Reference:

  1. R. Kama, V. Kanneganti, C. Ungermann, J. E. Gerst. The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly. The Journal of Cell Biology, 2011; 195 (2): 203 DOI: 10.1083/jcb.201102115

Cite This Page:

Weizmann Institute of Science. "Unraveling Batten disease." ScienceDaily. ScienceDaily, 5 November 2011. <www.sciencedaily.com/releases/2011/11/111102093037.htm>.
Weizmann Institute of Science. (2011, November 5). Unraveling Batten disease. ScienceDaily. Retrieved April 24, 2014 from www.sciencedaily.com/releases/2011/11/111102093037.htm
Weizmann Institute of Science. "Unraveling Batten disease." ScienceDaily. www.sciencedaily.com/releases/2011/11/111102093037.htm (accessed April 24, 2014).

Share This



More Health & Medicine News

Thursday, April 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Big Pharma Braces for M&A Wave

Big Pharma Braces for M&A Wave

Reuters - Business Video Online (Apr. 22, 2014) Big pharma on the move as Novartis boss, Joe Jimenez, tells Reuters about plans to transform his company via an asset exchange with GSK, and Astra Zeneca shares surge on speculation that Pfizer is looking for a takeover. Joanna Partridge reports. Video provided by Reuters
Powered by NewsLook.com
Study Says Most Crime Not Linked To Mental Illness

Study Says Most Crime Not Linked To Mental Illness

Newsy (Apr. 22, 2014) A new study finds most crimes committed by people with mental illness are not caused by symptoms of their illness or disorder. Video provided by Newsy
Powered by NewsLook.com
Hagel Gets Preview of New High-Tech Projects

Hagel Gets Preview of New High-Tech Projects

AP (Apr. 22, 2014) Defense Secretary Chuck Hagel is given hands-on demonstrations Tuesday of some of the newest research from DARPA _ the military's Defense Advanced Research Projects Agency program. (April 22) Video provided by AP
Powered by NewsLook.com
How Smaller Plates And Cutlery Could Make You Feel Fuller

How Smaller Plates And Cutlery Could Make You Feel Fuller

Newsy (Apr. 22, 2014) NBC's "Today" conducted an experiment to see if changing the size of plates and utensils affects the amount individuals eat. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins