Navigation Links
New culprit found in Lou Gehrig's disease
Date:11/21/2011

CHICAGO --- Following a major Northwestern Medicine breakthrough that identified a common converging point for all forms of amyotrophic lateral sclerosis (ALS and Lou Gehrig's disease), a new finding from the same scientists further broadens the understanding of why cells in the brain and spinal cord degenerate in the fatal disease.

Less than three months ago, Northwestern research found that the crucial recycling system for cells in the brain and spinal cord was broken in people with ALS. And one mutated gene had a key role. Like a loafing worker, it wasn't doing its job to recycle damaged cells.

Now, scientists have discovered a second faulty gene -- a new loafing worker -- in the same recycling pathway. The finding is reported in Archives of Neurology.

"Now that we have two bad players, it shines more light on this broken pathway," said senior author Teepu Siddique, M.D., the Les Turner ALS Foundation/Herbert C. Wenske Professor of the Davee Department of Neurology and Clinical Neurosciences at Northwestern's Feinberg School and a neurologist at Northwestern Memorial Hospital. "This gives us a clear target to develop drug therapies to try to fix this problem. It strengthens our belief that this broken system is at the heart of ALS."

The new "bad player" is called sequestosome1. The previously identified mutated gene is ubiquilin2. Because these two genes aren't doing their jobs to recycle damaged proteins, those proteins as well as sequestosome1 and ubiquilin2 -- accumulate abnormally in the motor neurons in the spinal cord and cortical and hippocampal neurons in the brain. The protein accumulations resemble twisted skeins of yarn -- characteristic of ALS -- and cause the degeneration of the neurons.

In the new study, sequestosome1 genetic mutations were identified in 546 ALS patients; 340 with an inherited form of the disease, called familial, and 206 with a non-inherited form of the disease, called sporadic.

About 90 percent of ALS is sporadic and 10 percent is familial. To date, mutations in about 10 genes, several of which were discovered at Northwestern, including SOD1 and ALSIN, account for about 30 percent of classic familial ALS, noted Faisal Fecto, M.D., study lead author and a PhD candidate in neuroscience at Feinberg.

ALS affects an estimated 350,000 people worldwide, including children and adults, with about 50 percent of people dying within three years of its onset. In the motor disease, people progressively lose muscle strength until they become paralyzed and can no longer move, speak, swallow and breathe. ALS/dementia targets the frontal and temporal lobes of the brain, affecting patients' judgment, the ability to understand language and to perform basic tasks like planning what to wear or organizing their day.

The discovery of the breakdown in protein recycling may also have a wider role in other neurodegenerative diseases, particularly the dementias. These include Alzheimer's disease and frontotemporal dementia as well as Parkinson's disease, all of which are characterized by aggregations of proteins, Siddique said. The removal of damaged or misfolded proteins is critical for optimal cell functioning, he noted.


'/>"/>

Contact: Marla Paul
Marla-Paul@northwestern.edu
312-503-8928
Northwestern University
Source:Eurekalert

Related medicine news :

1. Researchers search for culprit behind dry eyes, mouths and more
2. Key culprit identified in breast cancer metastasis
3. Lung cancer culprit could offer target for therapy, UT Southwestern researchers report
4. Researchers identify breast cancer culprits
5. Cancer drug cisplatin found to bind like glue in cellular RNA
6. Kessler Foundation reports benefits of behavioral technique for cognitive rehabilitation in MS
7. Kessler Foundation awarded stroke research grant by Wallerstein Foundation
8. Kessler Foundation scientists awarded grants to study cognition in MS
9. Compound found in common wart treatment shows promise as leukemia therapy
10. Founder of international telecom company and more to be honored by NJIT
11. Researchers have found evidence for the existence of a hypnotic state
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... June 19, ... the dangers associated with chronic pain and the benefits of holistic treatments, Serenity ... who are suffering with Sickle Cell Disease. , Sickle Cell Disease (SCD) is a ...
(Date:6/24/2016)... ... June 24, 2016 , ... Global law firm Greenberg Traurig, ... Elite. The attorneys chosen by their peers for this recognition are considered among the ... Traurig Shareholders received special honors as members of this year’s Legal Elite Hall of ...
(Date:6/24/2016)... , ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway ... call for a minimum wage raise to $12 an hour by 2020 and then adjusting ... restore the lost value of the minimum wage, assure the wage floor does not erode ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... ... Living, is proud to recognize Dr. Barry M. Weintraub as a prominent plastic ... most beautiful women in the world, and the most handsome men, look naturally ...
(Date:6/24/2016)... ... June 24, 2016 , ... National recruitment firm Slone ... executive with extensive sequencing and genomics experience, as Vice President of North American Capital ... will be responsible for leading the sales team in the commercialization of the HTG ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... Research and Markets has announced the ... report to their offering. ... favourable commercial environment for MedImmune to enter. The US ageing ... serve to drive considerable growth for effective anti-influenza medications. The ... sales considerably, but development is still in its infancy. ...
(Date:6/23/2016)... RIDGE, Ill. and INDIANAPOLIS ... of students receiving a Lilly Diabetes Tomorrow,s Leaders Scholarship ... The 2016 scholarship winners, announced today online at ... to let type 1 diabetes stand in the way ... Diabetes has supported the Foundation,s scholarship program since 2012, ...
(Date:6/23/2016)... N.J. , June 23, 2016  Guerbet announced ... Premier Inc.,s Supplier Horizon Award . ... year, Guerbet was recognized for its support of Premier ... creation through clinical excellence, and commitment to lower costs. ... to receive this recognition of our outstanding customer service ...
Breaking Medicine Technology: