Navigation Links
More genes for Lou Gehrig's disease identified, according to Penn researchers
Date:4/7/2008

PHILADELPHIA - In recent months a spate of mutations have been found in a disease protein called TDP-43 that is implicated in two neurodegenerative disorders: amyotrophic lateral sclerosis (ALS), also called Lou Gehrigs disease, and certain types of frontotemporal dementia (FTD). These mutations could potentially become candidates for drug targets.

Recently, colleagues at the University of Pennsylvania School of Medicine and Veterans Affairs in Seattle, WA have found two more mutations. They published their findings online in advance of print publication in the May issue of The Lancet Neurology.

Now we have a direct link between the genetics and the clinical pathology of these diseases, says co-author Vivianna M. Van Deerlin, MD, PhD, Assistant Professor of Pathology and Laboratory Medicine at Penn. This solves the question of whether TDP-43 is involved in the disease itself or a just a byproduct of it.

Put this all together and it becomes completely convincing that there are mutations in this gene that causes some forms of ALS, says co-author Gerard D. Schellenberg, PhD, Associate Director for Research, Veterans Affairs Puget Sound Health Care System, in Seattle, WA

Essentially, these mutations are hard evidence that TDP-43 is critical for the disease process. In some cases the accumulation of TDP-43 may initiate disease; in others, it might be a downstream player in the onset of pathology.

In late 2006, Virginia Lee, PhD and John Trojanowski, MD, PhD at the Center for Neurodegenerative Disease Research at Penn found that TDP-43 accumulated abnormally in post-mortem brain tissue from individuals diagnosed with either disease. The misfolded, disease protein was recovered from only affected central nervous system regions, which include the hippocampus, neocortex, and spinal cord. TDP-43 is normally involved in RNA and DNA processing, among other cellular tasks.

The research team surveyed 259 individuals wit
'/>"/>

Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Pathway links inflammation, angiogenesis and breast cancer
2. Traffic Fumes Plus Genes Boosts Kids Asthma Risk
3. New Database to Help Speed Search for Bipolar Disorder Genes
4. Is Perfect Pitch All in the Genes?
5. Discovery suggests location of genes for breast density, a strong risk factor for breast cancer
6. Genes Boost Risk for Rheumatoid Arthritis, Lupus
7. The genes involved in rheumatoid arthritis identified
8. If you think cancer genes are simple, you dont know JAK
9. Test for lung cancer looks for discomforting quiet among protective genes
10. Hushed Genes Might Mean Higher Lung Cancer Risk
11. EURYI project to understand how the brain wires during embryogenesis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/25/2014)... California (PRWEB) December 25, 2014 Helen ... home in Woodland Hills, California after an 8 year ... away on Christmas Eve evening in her home in ... aggressive metastatic breast cancer. , As ... over forty years, she pioneered and championed many of ...
(Date:12/25/2014)... Thompson HealthDay Reporter WEDNESDAY, ... complex chronic illnesses can receive effective, less expensive care from ... access to a team of dedicated health care professionals, a ... seriously ill and need either hospitalization or a trip to ... medical home clinic at the University of Texas in Houston ...
(Date:12/25/2014)... 2014 (HealthDay News) -- Among early stage breast cancer ... half of one percent will eventually develop leukemia as ... The finding comes from a review of more ... 2007, and it suggests that the risk for developing ... had previously thought. "The frequency of bone marrow ...
(Date:12/25/2014)... York (PRWEB) December 25, 2014 Thousands ... to move forward in a number of multidistrict litigations ... West Virginia, Bernstein Liebhard LLP reports. According to an ... scheduled to convene a Joint Status Conference in all ... a.m. Parties have been directed to submit a proposed ...
(Date:12/25/2014)... December 25, 2014 Residents at ... Community, recently showed their generous spirit by providing ... Catawba County Parenting Network- Grandparents Raising Grandchildren program. ... gathered around the largest Christmas tree on the ... purchased by residents of the Abernethy Village Association ...
Breaking Medicine News(10 mins):Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 2Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 3Health News:RP International founder, Helen Harris Dies on Christmas Eve Just Hours Before Her Holiday Television Broadcast to Raise Funds to Cure Blindness was Broadcasted Nationally 4Health News:Coordinated Care Through 'Medical Home' Best for Chronically Ill Kids: Study 2Health News:Coordinated Care Through 'Medical Home' Best for Chronically Ill Kids: Study 3Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 2Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 3Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 2Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 3Health News:Federal Court Overseeing Thousands of Transvaginal Mesh Lawsuits Set to Convene Joint Status Conference for All Litigations, Bernstein Liebhard LLP Reports 4Health News:Retirement Community Residents Make Impact During Holiday Season 2
... and find that the passion has fizzled out. You no longer feel ... chest // and are at a loss to understand this. Well, ... have found that the first year of romance is the best one ... is released in the brain. The NGF is a protein and was ...
... half of face taken from a brain dead donor in France. ... lips, nose and chin was taken and transplanted to a woman ... ,Doctors have clarified that the face the woman is going ... the donor’s face. ,If accepted the real benefit of ...
... by the University of Frankfurt has revealed that singing ... stimulates the production of antibodies. Singing also serves to ... As many as 31 amateur singers were studied before ... meditation and walking in terms of its positive effects ...
... of the Suffolk East Primary Care Trust will be banned ... they are wearing their identification// badge or uniform. The ban ... contractors, visitors, volunteers and other people who visit the premises ... combined board has been called upon to give its approval ...
... is a very popular drink in Europe and more so in ... healthy beer called karla //, which they claim has the power ... beer is made form herbs and also contains lecithin soya extract, ... alcohol percentage. Chemists claim that the sale of this beer is ...
... Even as the Pakistani government struggles to prevent dengue ... have confirmed that the Crimean-Congo hemorrhagic fever (CCHF) // ... woman doctor, and infected around 45 people in the ... known as Congo fever, is spread through the bite ...
Cached Medicine News:
(Date:12/24/2014)... International Trade Commission (ITC) issued its final decision in the ... notice issued on December 23, the ITC ruled in favor ... was invalid. BMC President, James Xu ... with the ITC,s decision in this case. This victory for ... very beginning on the key patents in the case. ResMed ...
(Date:12/24/2014)... and FARMINGTON, Conn. ... Inc. (NYSE MKT: PTN), a biopharmaceutical company developing ... diseases with significant unmet medical need and commercial ... a private placement of 2,050,000 shares of its ... 24,949,325 shares of its common stock.  Funds under ...
(Date:12/24/2014)... Dec. 23, 2014 Echo Therapeutics, Inc. ... company focused on skin permeation, continuous glucose monitoring ... W. Hollander has been appointed Chief Executive ... more than 20 years of experience in the ... most recently served as Vice President, Business Development, ...
Breaking Medicine Technology:ITC Final Decision Goes Against ResMed (RMD) Monumental Win for 3B/BMC 2Palatin Completes $20 Million Equity and $10 Million Debt Financings 2Palatin Completes $20 Million Equity and $10 Million Debt Financings 3Palatin Completes $20 Million Equity and $10 Million Debt Financings 4Echo Therapeutics Announces Scott W. Hollander as President & Chief Executive Officer 2Echo Therapeutics Announces Scott W. Hollander as President & Chief Executive Officer 3
... DIEGO, June 8, 2011 Otonomy, Inc., ... of the ear, today announced positive results for OTO-201, ... in multiple preclinical studies evaluating the treatment of middle ... placement surgery.  Approximately one million tube placement procedures are ...
... NORTH KINGSTOWN, R.I., June 8, 2011 Leading national ... Tufts Health Care Institute,s (THCI) Program on Opioid Risk ... support of THCI,s Program on Opioid Risk Management began ... promoting the safe and effective use of controlled opioid ...
Cached Medicine Technology:Otonomy Announces Preclinical Results Supporting Intra-operative Use of OTO-201 for Common Childhood Procedure 2Otonomy Announces Preclinical Results Supporting Intra-operative Use of OTO-201 for Common Childhood Procedure 3Otonomy Announces Preclinical Results Supporting Intra-operative Use of OTO-201 for Common Childhood Procedure 4Dominion Diagnostics Supports Opioid Risk Management Program for Fourth Consecutive Year 2
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
Medicine Products: