Navigation Links
Unraveling Batten disease

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 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.


Contact: Yivsam Azgad
Weizmann Institute of Science

Related biology news :

1. Unraveling a new regulator of cystic fibrosis
2. Unraveling Alzheimers: Simple small molecules could untangle complex disease
3. Tel Aviv University President Co-authors Important Paper Unraveling the Effect of Spatial Organization on Intracellular Chemistry
4. New book offers practical advice for unraveling the genetics of complex human diseases
5. March of Dimes awards $250,000 prize to scientists unraveling the causes of muscular dystrophy
6. Physics, math provide clues to unraveling cancer
7. Brain structure provides key to unraveling function of bizarre dinosaur crests
8. OHSU Doernbecher Childrens Hospital conducts second phase of landmark Batten study
9. Mutation in gene associated with rare eye disease also contributes to bladder cancer growth
10. Scientists discover new drug candidates for cystic fibrosis and other diseases
11. The Michael J. Fox Foundation awards nearly $200,000 to develop novel drugs for Parkinsons disease
Post Your Comments:
(Date:5/6/2017)... 2017 RAM Group , Singaporean ... breakthrough in biometric authentication based on a ... to perform biometric authentication. These new sensors are based ... by Ram Group and its partners. This sensor will ... chains and security. Ram Group is a next ...
(Date:4/18/2017)...  Socionext Inc., a global expert in SoC-based imaging and computing ... M820, which features the company,s hybrid codec technology. A demonstration utilizing ... Inc., will be showcased during the upcoming Medtec Japan at Tokyo ... Las Vegas Convention Center April 24-27. ... Click here for an image ...
(Date:4/13/2017)... According to a new market research report "Consumer IAM Market by Solution ... Authentication Type, Deployment Mode, Vertical, and Region - Global Forecast to 2022", ... 14.30 Billion in 2017 to USD 31.75 Billion by 2022, at a ... ... MarketsandMarkets Logo ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... DuPont ... today that they have entered into a multiyear collaboration to identify and characterize ... with additional tools for gene editing across all applications. , Under the terms ...
(Date:10/12/2017)... , ... October 12, 2017 ... ... has launched Rosalind™, the first-ever genomics analysis platform specifically designed for life ... Named in honor of pioneering researcher Rosalind Franklin, who made a major ...
(Date:10/11/2017)... ... , ... ComplianceOnline’s Medical Device Summit is back for its 4th year. The ... Francisco, CA. The Summit brings together current and former FDA office bearers, regulators, industry ... officials from around the world to address key issues in device compliance, quality and ...
(Date:10/11/2017)... Georgia (PRWEB) , ... October 11, 2017 , ... Disappearing ... taking the lives of over 5.5 million people each year. Especially those living in ... greenovative startup Treepex - based in one of the most pollution-affected countries globally - ...
Breaking Biology Technology: