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:10/12/2017)... , ... October 12, 2017 , ... ... to meet the demand of today’s consumer and regulatory authorities worldwide. From Children’s ... experts and tested to meet the highest standard. , These products are ...
(Date:10/12/2017)... ... October 12, 2017 , ... Asante, a nationally recognized ... have expanded their existing home health joint venture through an agreement, effective October ... a joint venture home health company with Asante, delivering clinically integrated care, for ...
(Date:10/12/2017)... PA (PRWEB) , ... October 12, 2017 , ... ... is the recipient of a 2017 Folio Magazine Eddie Digital Award for ‘Best B-to-B ... York City on October 11, 2017. , The annual award competition recognizes editorial and ...
(Date:10/12/2017)... ... October 12, 2017 , ... Women-owned and Grand Rapids-based workplace ... Brightest in Wellness® by Best and Brightest. OnSite Wellness will be honored at ... from 7:30 a.m. to 2 p.m. at the Henry Autograph Collection Hotel, located ...
(Date:10/12/2017)... ... 12, 2017 , ... Vohra Chief Medical Officer Dr. Shark ... skilled nursing facility medical directors and other clinicians at various events in October. ... "At many of these conferences we get to educate other physicians, facility nurses, ...
Breaking Medicine News(10 mins):
(Date:9/25/2017)... AMSTERDAM , Sept. 25, 2017   ... Trial Master File solutions, today—from the IQPC Trial ... Amsterdam , NL)—announced that EastHORN Clinical Services ... its clinical programs and TMF management. EastHORN, a ... Montrium,s eTMF platform to increase transparency to enable ...
(Date:9/19/2017)... -- HistoSonics, Inc., a venture-backed medical device company developing a non-invasive, robotically assisted, platform therapy ... team developments today:   ... ... Tom Tefft ... Veteran medical device executive Josh Stopek , PhD, who has led R&D ...
(Date:9/12/2017)... NEW YORK , Sept. 12, 2017   EcoVadis ... global supply chains, has published the first annual edition of its Global ... more than 20,400 companies evaluated by EcoVadis, based on Scorecard Ratings that ... ... Risk & Performance Index ...
Breaking Medicine Technology: