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:4/17/2014)... recent Yokahama IPCC meeting painted a stark warning on ... which has a greenhouse effect 32 times that of ... shown that humic substances act as fully regenerable electron ... are held in wetlands instead of being released to ... system is disrupted it may enter into a vicious ...
(Date:4/17/2014)... the genetic information of DNA is used to ... numerous different functions in living organisms. Messenger RNA ... expression, by relating the genetic information of DNA ... , By examining the different types and ... at a given time, researchers can determine which ...
(Date:4/17/2014)... uncovered a new way the immune system may fight ... to use immune cells to treat illness. , The ... immunological equivalent of "neighborhood police" specialized squads of ... instead of an entire city, the body. , Scientists ... have shown that the liver, skin and uterus each ...
Breaking Biology News(10 mins):Methane climate change risk suggested by proof of redox cycling of humic substances 2Rapid and accurate mRNA detection in plant tissues 2Some immune cells defend only 1 organ 2
... presented the 2013 Gustav O. Lienhard Award to Steven ... have helped save millions from premature, smoking-related deaths. ... as well as his work to improve end-of-life care. ... award to a dedicated champion of health for Americans ...
... -- Carnegie Mellon University President Subra Suresh has been ... making him the only current university president to be ... National Academy is among the highest professional distinctions accorded ... membership honors those who have made outstanding contributions to ...
... WASHINGTON -- The Institute of Medicine of the National Academies ... Clayton for their outstanding service today at the IOM,s 43rd ... Medal, awarded to an IOM member for distinguished service over ... on the Quality of Health Care in America, which produced ...
Cached Biology News:Leader of smoking cessation and tobacco prevention efforts receives Institute of Medicine's 2013 Lienhard Award 2Leader of smoking cessation and tobacco prevention efforts receives Institute of Medicine's 2013 Lienhard Award 3Leader of smoking cessation and tobacco prevention efforts receives Institute of Medicine's 2013 Lienhard Award 4Carnegie Mellon President Subra Suresh elected to Institute of Medicine 2Institute of Medicine honors members for outstanding service 2Institute of Medicine honors members for outstanding service 3
(Date:1/15/2014)... Toronto, ON (PRWEB) January 15, 2014 ... an experimental new therapy for the treatment of tinnitus. ... unique tinnitus frequency, and over a period of weeks to ... Notched Sound Therapy in two forms: Notched Music and Notched ...
(Date:1/14/2014)... January 14, 2014 Date: Friday, April 11, ... Warrington Country Club, 1360 Almshouse Road, Warrington, Pa. ... organization solely dedicated to finding a cure for hepatitis B ... will host its annual Crystal Ball on Friday, April 11 ...
(Date:1/14/2014)... San Diego, CA (PRWEB) January 14, 2014 ... based on the products of cells grown under simulated ... an international license agreement with Suneva Medical, Inc. for ... media (CCM). , This agreement is an ...
(Date:1/14/2014)... , Jan. 14, 2014 As pet owners drew up their ... of them wrote: "Take better care of my furry companion." Nowadays ... clothes and top-brand carrying cases to take the little canine or ... also feel compelled to buy some pricey toys at the pet ...
Breaking Biology Technology:Hepatitis B Foundation to Host Annual Crystal Ball Gala 2Histogen and Suneva Medical Expand License for Cell Conditioned Media-based Aesthetic Products Internationally 2Histogen and Suneva Medical Expand License for Cell Conditioned Media-based Aesthetic Products Internationally 3New Year's Resolution: Give Pets the Gift of Top-Notch Health Care 2
... SAN DIEGO, April 9, 2012 ADVENTRX Pharmaceuticals, Inc. ... establishment of a Regulatory Advisory Board (RAB). The RAB ... Company management in its interactions with the U.S. Food ... JD, who is rendering legal advice to Company management, ...
... wholly owned subsidiary of British company Innovative Carbon Limited today ... 10th April to 13th. , Graphene, a sheet of carbon ... wonder material. First isolated at Manchester University in 2004, ... race has been on to produce it commercially. To ...
... 2012  Albright Stonebridge Group (ASG), a global strategy ... senior advisors – Hakan Akbas, Steven Bipes, Brian ... leading ASG,s commercial activities and advising clients on ... clients of ASG,s Brazil practice as they look ...
Cached Biology Technology:ADVENTRX Announces Establishment of Regulatory Advisory Board 2ADVENTRX Announces Establishment of Regulatory Advisory Board 3ADVENTRX Announces Establishment of Regulatory Advisory Board 4ADVENTRX Announces Establishment of Regulatory Advisory Board 5ADVENTRX Announces Establishment of Regulatory Advisory Board 6UK company to demonstrate their commercially effective graphene production process 2Experts Strengthen Albright Stonebridge Group's Global Reach 2Experts Strengthen Albright Stonebridge Group's Global Reach 3
... Development, Pharmaceutical Development, Physician Owned Labs, Drugs of Abuse, and Industrial Testing applications. Analyzer ... ... ... ...
... OS X provides the most highly integrated ... analysis and molecular biology data management available ... Suite you can store manage view analyze ... molecular biology data all within one integrated ...
... determinations for petroleum-based applications. Multiple solvents can be used, such as water, benzene, formamide, nitrobenzene, ... ... ... ...
rat Leptin...
Biology Products: