Navigation Links
UA researchers find culprit behind skeletal muscle disease
Date:1/28/2014

A University of Arizona doctoral candidate has shown for the first time that genetic mutations in the titin gene can cause skeletal muscle myopathy, a disease in which muscle fibers do not function properly, resulting in muscle weakness. Myopathic disease can affect heart muscles as well as skeletal muscles, and titin is responsible for many problems associated with heart disease.

The research was done by Danielle Buck, a doctoral candidate in the UA's Department of Molecular and Cellular Biology. She worked under the direction of Henk Granzier, a professor in cellular and molecular medicine and physiology, who has studied titin for years.

Previous studies had shown that alterations in titin are involved in muscular myopathies, but whether these deviations actually cause myopathies, or merely result from them, has remained a mystery.

Buck has shown that mutations in the titin gene do in fact cause myopathies in skeletal muscles. Her study, published today in the Journal of General Physiology, could be an important first step in developing treatments to address causes of the disease.

"Patients with muscle myopathy experience muscle weakness, but not a lot has been known about what is going wrong at the molecular and genetic level, except that titin is often involved," Buck said. "Many patients with heart disease also have mutations in titin. So to develop treatments we need to understand the structure of titin and how it can cause or respond to disease."

"With about 35,000 amino acids, titin is the largest protein known, roughly 100 times larger than typical proteins, which have only around several hundred amino acids," Granzier explained. Amino acids are the building blocks of proteins.

Titin, he said, functions as a molecular spring that makes tissues elastic so that when they deform they can snap back again. "Titin is a vital determinant of the elasticity of skeletal and heart muscles, which is ver
'/>"/>

Contact: Shelley Littin
littin@email.arizona.edu
319-541-1482
University of Arizona
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. Researchers tune in to protein pairs
2. Ottawa researchers discover new combination therapy to kill cancer
3. Cleveland Clinic researchers discover process that turns good cholesterol bad
4. Researchers discover potential drug targets for early onset glaucoma
5. Researchers identify innate channel that protects against pain
6. Combustion continues to draw researchers to space station
7. Curtin researchers to hide our splashes from sharks
8. Researchers discover how heart arrhythmia occurs
9. Researchers collaborate to reduce effects of the aging eye
10. 1 step at a time, researchers learning how humans walk
11. Researchers discover that coevolution between humans and bacteria reduces gastric cancer risk
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UA researchers find culprit behind skeletal muscle disease
(Date:12/11/2014)... 10, 2014  That blood pressure plays a role in human ... the medical term for high blood pressure – was first ... inflatable cuff that,s used in measuring blood pressure was invented ... new about hypertension, its triggers and its effects. In fact, ...
(Date:12/10/2014)... , Dec. 9, 2014  Valencell, a leader in ... seeing a staggering demand from its licensees for highly ... revealed, is not solely coming from fitness and health ... "A wearable is only as useful as ...
(Date:12/10/2014)... Research and Markets ( http://www.researchandmarkets.com/research/xclcvw/biometrics_market ) has ... Japan 2014-2018" report to their offering. ... of biometrics and smart cards for projects such as ... one of the major trends witnessed in the market. ...
Breaking Biology News(10 mins):Research points to need for new approaches to treatment of high blood pressure 2Research points to need for new approaches to treatment of high blood pressure 3Research points to need for new approaches to treatment of high blood pressure 4Wearable Technology Products Demand Highly Accurate Biometric Technology 2Biometrics Market in Japan 2014-2018: Key Vendors are DDS, Fujitsu, Hitachi and NEC 2
... Canada December 7, 2012 More than ... in a major world-wide initiative: Mathematics of Planet ... the contributions made by mathematics in tackling global ... and tsunamis; climate change; sustainability; and pandemics. MPE2013 ...
... of identifying genes that contribute to the development ... several immune-system-related pathways contribute to development of autism ... in the open-access journal PLOS ONE ... in autism by integrating analysis of autism-associated DNA ...
... drought last year in the Horn of Africa affected millions ... northern Europe of several migratory songbird species, a study from ... Details of the migration route was revealed by data collected ... resulted from an extended stay in the Horn of Africa. ...
Cached Biology News:Mathematicians tackle global issues 2Mathematicians tackle global issues 3Combining two genome analysis approaches supports immune system contribution to autism 2Combining two genome analysis approaches supports immune system contribution to autism 3Drought in the Horn of Africa delays migrating birds 2
(Date:1/22/2015)... Crystal Diagnostics (CDx) Xpress System, a rapid ... AOAC-PTM Certifications for the six non-O157 Shiga toxin-producing E. coli ... to as STEC or the “Big-6”) as well as Escherichia ... per 325 g of raw ground beef and raw beef ...
(Date:1/22/2015)... (PRWEB) January 22, 2015 zFlo Motion ... pleased to announce an exciting product from a new partner. ... analysis solutions over the past 15 years, with offerings in ... recently, their 3D IMU system (inertial measurement unit), iSen, is ...
(Date:1/22/2015)... 22, 2015 Controlled Substance Compliance Services ... helps companies check the legal requirements around using controlled ... China. , As their international operations expand and ... software solutions built as a result of the first ...
(Date:1/22/2015)... Diagenode, Inc., a leading global ... and complete solutions for epigenetics research, recently launched ... the need for manual processing. The new ChIPettor ... of histones or transcription factors and a semi-automated ...
Breaking Biology Technology:Crystal Diagnostics Awarded AOAC-PTM Accreditation for the Rapid Detection of “Big 6” E.coli Food Pathogens 23D Motion Capture Just Got Easy 2Global Compliance Service for Controlled Substances to Expand to China 2Diagenode Launches Unique Semi-Automated Solution for Chromatin Immunoprecipitation 2
... Mass., Sept. 3 Inverness Medical,Innovations, Inc. (Amex: ... of rapid,diagnostic products for the consumer and professional ... Officer and,President, and Jon Russell, Vice President, Finance, ... Healthcare Unplugged Conference on,Tuesday, September 9th, 2008 in ...
... ... operations, DARIEN, Conn., ... unveiled a new search,category -- Practice Management. The new category connects ... the financial, legal and administrative resources needed to,effectively manage a medical ...
... Sun Pharmaceutical Industries,Ltd. (Reuters: SUN.BO, Bloomberg: SUNP ... subsidiary, Alkaloida Chemical Company Exclusive Group,Ltd. (Alkaloida), has ... for,the purchase of all outstanding Ordinary Shares of ... expire at 5:00 p.m., New York,City time, on ...
Cached Biology Technology:SearchMedica Launches Practice Management Search Engine for Medical Professionals 2Sun Pharmaceutical Extends Tender Offer for Taro 2Sun Pharmaceutical Extends Tender Offer for Taro 3
... The Label IT siRNA Tracker Intracellular Localization ... directly label and deliver siRNA, of your ... for in vitro tracking experiments. Subcellular localization ... can be monitored following introduction of the ...
... Invasion through the extracellular matrix (ECM) ... Cancer cells initiate invasion by adhering ... wall. Proteolytic enzymes, such as MMP ... covering (basement membrane) surrounding the blood vessels ...
... quick and reproducible immunoprecipitation (IP) by using a ... reproducible than regular IPs, which are problematic with ... disrupting the agarose bed. The binding of the ... and elution of the immune complex can occur ...
... Rabbit anti-Wilm's tumor, Polyclonal Antibody, ... IHC-P: Use at a dilution ... assay dependent dilution. WB: Use at ... weight: 51 kDa. Not tested in ...
Biology Products: