Navigation Links
Scripps Research scientists solve mystery of nerve disease genes
Date:7/4/2011

LA JOLLA, CA July 4, 2011 For several years, scientists have been pondering a question about a genetic disease called Charcot-Marie-Tooth (CMT) disease type 2D: how can different types of mutations, spread out across a gene, produce the same condition?

Now, a team of scientists at The Scripps Research Institute may have found the answer. By studying a gene called GARS, which is mutated in individuals with the disease, the team found that all the mutations have one thing in common: they cause the tightly coiled three-dimensional shape of the resulting protein to shift open.

The more open configuration creates a space for other proteins to bind, causing havoc. "That is the basis for potential disease-causing interactions," said Scripps Research Associate Professor Xiang-Lei Yang, senior author of the study, "but also for potential therapeutic intervention." It is possible that scientists could develop drugs to fit into the open area, blocking its access to other proteins.

The findings, to be published this week in the online issue of Proceedings of the National Academies of the Sciences (PNAS) help scientists explain how CMT type 2D occurs. The results may also have implications for other diseases, such as amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.

A Puzzling Disease

Named after the three physicians who first reported the disease in 1886, CMT is the most common inherited neurological disorder, estimated to affect one in 2,500 people. Although it is not fatal, CMT causes progressive weakness and wasting of muscles in the feet, legs, hands, and forearms by striking down the nerves that reach down into these muscles.

There are five different forms of CMT, and each is broken down in various subtypes depending on the gene responsible. CMT type 2D, which is caused by mutations in the GARS gene, is inherited in an autosomal dominant mannerthis means that a person needs to
'/>"/>

Contact: Mika Ono
mikaono@scripps.edu
858-784-2052
Scripps Research Institute
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Scripps awarded $7.9 million NIH grant for research to find root cause of heart attack
2. Scripps study finds plastic in 9 percent of garbage patch fishes
3. Scripps Research Institute Scientist Knighted by Italian Republic
4. Scripps Research team sheds new light on how blood clots form
5. Scripps Research scientists awarded $2.2 million to develop treatment for multi-drug addiction
6. Scripps Research scientist wins $1.9 million grant to study malaria
7. Scripps Research scientists find way to block stress-related cell death
8. Scripps Research scientists find key mechanism in transition to alcohol dependence
9. Scripps Research scientists create new genetic model of premature aging diseases
10. Scripps Research scientists identify mechanism of long-term memory
11. Scripps Research scientists uncover new DNA role in modifying gene function
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/2/2015)... 2015 At its 2015 ACMG Annual Clinical ... , the American College of Medical Genetics and Genomics ... its Board.  Members of the ACMG Board of Directors ... and advancing its policies and programs. ACMG is the ... "It,s an eventful time in medical genetics and genomics.  ...
(Date:4/2/2015)... GOTHENBURG, Sweden , April 2, 2015 ... for its touch fingerprint sensor FPC1025 from the distributor ... Deliveries will commence during Q2 2015 although the major ... 2015. The sensors will be used by smartphone manufacturers ... of 110 MSEK is included in the communicated revenue ...
(Date:4/1/2015)... --  Medisafe ™, the leading global medication management platform ... and Android smartphones and tablets, announces today ... to allow patients to track and correlate their adherence ... will be able to visualize in real-time how taking ... as glucose levels and blood pressure. "Patients ...
Breaking Biology News(10 mins):American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 2American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 3American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 4American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 5American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 6American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 7American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President-Elect 8Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 110 Million 2Medisafe Announces Launch of Biometric Integration, Enabling Patients to Stay Adherent to Their Meds and See Tangible Health Results 2
... suffered a stroke continued to experience eating problems and more than ... been a marked improvement in most of their physical functions. That ... March issue of the Journal of Advanced Nursing . ... who had had a stroke, assessing them in hospital at a ...
... Collaborative research from the WALTHAM Centre for Pet Nutrition ... who own dogs are more physically active than those who ... women who owned dogs were approximately 50% more likely to ... assessed over 11,000 pregnant women in the UK using data ...
... In a coup for a university without a medical ... received prestigious 2012 Sloan Research Fellowships from the Alfred ... Meyer, Assistant Professor of Physics Ying Ran, Assistant Professor ... Liane Young were among the 126 researchers recognized by ...
Cached Biology News:Eating problems persist 3 months after stroke and 56 percent still face malnutrition risk 2Dog owners more likely to achieve recommended activity levels during pregnancy 24 Boston College faculty members named Sloan Research Fellows 24 Boston College faculty members named Sloan Research Fellows 3
(Date:4/17/2015)... , April 17, 2015  Centrillion ... a SBIR grant from the National Human ... Institutes of Health (NIH). The grant will ... in the development of breakthrough genomic technologies, ... specially fabricated substrates. Centrillion has been developing ...
(Date:4/17/2015)... SYDNEY , April 17, 2015  US-Australian drug ... signed a Memorandum of Understanding with the Feinstein ... New York to collaborate with ... cancers. The collaboration brings together the ... and clinical expertise of the Feinstein Institute in ...
(Date:4/16/2015)... and OSAKA, Japan , ... Research Application (CiRA) of Kyoto University and Takeda ... will work together to develop clinical applications of ... heart failure, diabetes mellitus, neurological disorders and cancer ... Applications" (T-CiRA) is designed to expedite multiple research ...
(Date:4/16/2015)... , April 16, 2015  Schulman Associates IRB, ... technology, has signed a long-term lease on Laboratory Drive ... North Carolina . The location will house review ... to provide high quality reviews and customer service to ... represented Schulman in the deal, while Capital ...
Breaking Biology Technology:Novogen and Feinstein Institute Join Forces to Find Effective Treatments for Brain Cancer 2Novogen and Feinstein Institute Join Forces to Find Effective Treatments for Brain Cancer 3Novogen and Feinstein Institute Join Forces to Find Effective Treatments for Brain Cancer 4Novogen and Feinstein Institute Join Forces to Find Effective Treatments for Brain Cancer 5Novogen and Feinstein Institute Join Forces to Find Effective Treatments for Brain Cancer 6CiRA and Takeda Enter 10-year Collaboration on iPS Cell Research 2CiRA and Takeda Enter 10-year Collaboration on iPS Cell Research 3Schulman IRB to Open Office in Research Triangle Park, N.C. 2
... 5 /PRNewswire-FirstCall/ - Spectral Diagnostics Inc. (TSX:,SDI) today ... Toray,Medical Co. Ltd. for the marketing and sale ... cleared assay for the measurement of,endotoxin. Under the ... access to Toray,s distributors in new geographic territories,including ...
... with Bioscene in Japan - Expands Presence in Japan, ... announced,today that the Japan Patent Office (JPO) has licensed ... Inc. (Bioscene) as,its exclusive partner for the distribution of ... assist the JPO in the review and approval,of patent ...
... YM BioSciences Inc.,(AMEX: YMI , TSX: YM, ... commercializes differentiated products for patients worldwide,today announced that ... AeroLEF(TM) will be presented at The 27th Annual,Scientific ... place May,8-10, 2008 in Tampa, Florida., The ...
Cached Biology Technology:Spectral and Toray expand collaboration to include new geographic territories 2Spectral and Toray expand collaboration to include new geographic territories 3Japan Patent Office Licenses GeneCards(R) from Xennex, Inc. 2Japan Patent Office Licenses GeneCards(R) from Xennex, Inc. 3Japan Patent Office Licenses GeneCards(R) from Xennex, Inc. 4YM BIOSCIENCES ANNOUNCES PRESENTATIONS FOR AEROLEF(TM) AT AMERICAN PAIN SOCIETY ANNUAL MEETING 2
... is tailored to highly enrich ... of non-human primate (Rhesus monkey) ... the StemSep compatible 0.5 Tesla) ... CD4+ T cell content of ...
Mol wt: monoisotopic mol wt1,045.5423 Da by calculation...
...
... in immunostaining ,This solution has effect on ... get clearer signal than the one obtained ... amount of secondary antibody used and exposure ... can have images with high S/N ratio ...
Biology Products: