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:7/30/2015)... MOUNTAIN VIEW, Calif. , July 30, 2015 ... products and services for gene function analysis and ... CRISPR Guide RNA (sgRNA) Knockout Library targeting all ... to specifically and permanently "knock out" a gene,s ... library provides a high throughput screening tool so ...
(Date:7/23/2015)... Aware, Inc. (NASDAQ: AWRE ), a leading ... for its second quarter ended June 30, 2015.  ... million, a decrease of 33% compared to $6.8 million in ... quarter of 2015 was $0.3 million, or $0.01 per diluted ... share, in the same period a year ago.  ...
(Date:7/21/2015)... July 21, 2015  NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce ... announces that it has filed provisional patent 62/192218 ... This invention highlights next generation ... an account, but also the user using unique ...
Breaking Biology News(10 mins):CELLECTA, INC. Announces Launch of Human Whole Genome CRISPR Knockout Library 2Aware, Inc. Reports Second Quarter 2015 Financial Results 2Aware, Inc. Reports Second Quarter 2015 Financial Results 3Aware, Inc. Reports Second Quarter 2015 Financial Results 4Aware, Inc. Reports Second Quarter 2015 Financial Results 5Aware, Inc. Reports Second Quarter 2015 Financial Results 6NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 2NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 3NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 4
... spontaneous organised motion of a large number of individuals. It ... and groups of insects to shoals of fish, flocks of ... Lobaskin from University College Dublin, Ireland, have uncovered new collective ... EPJ B . Ultimately, this could be used to ...
... only species with a sweet tooth. Research from North Carolina ... Drosophila suzukii ) also prefers sweet, soft fruit giving ... the United States over the past four years and threatens ... U.S. fruit crops. "Because we know that D. ...
... an extinct Australian frog has been revived and reactivated by ... a "dead" cell nucleus into a fresh egg from another ... which uniquely swallowed its eggs, brooded its young ... became extinct in 1983., But the Lazarus Project team has ...
Cached Biology News:Study offers new insights on invasive fly threatening US fruit crops 2Lost frog DNA revived: Lazarus Project 2
(Date:8/3/2015)... (PRWEB) , ... August 03, 2015 , ... Nine field ... Iowa, Illinois and Indiana. Hosted by the Soil Health Partnership , the field ... lasting environmental benefits while potentially increasing farm productivity and income. , Brent Bible has ...
(Date:8/3/2015)... GERMANTOWN, Md. , Aug. 3, 2015   ... it will release first half and second quarter 2015 ... 10 th , 2015.  The Company will host a ... results and provide a general business update. ... (Domestic US) and 1-412-902-4262 (International), and asking to join ...
(Date:8/3/2015)... Kent, WA (PRWEB) , ... August 03, 2015 ... ... TLD3000 and TLD5000 diaphragm vacuum pumps to its comprehensive line of analytical laboratory ... stainless steel valves, these versatile pumps provide a chemically resistant and maintenance-free solution ...
(Date:7/31/2015)... China Cord Blood Corporation (NYSE: CO) ("CCBC" ... provider of cord blood collection, laboratory testing, hematopoietic stem ... that the Company has filed its Annual Report on ... The filed Form 20-F includes audited financial statements for ... 20-F can be accessed by visiting the U.S. Securities ...
Breaking Biology Technology:Soil Health Field Days Kick Off Throughout Midwest 2Soil Health Field Days Kick Off Throughout Midwest 3Intrexon to Announce First Half and Second Quarter 2015 Financial Results and Host Conference Call on August 10th 2Sterlitech Launches New Line of Vacuum Pumps 2China Cord Blood Corporation Files Its Annual Report on Form 20-F 2
... ... will take place on May 16-19, 2010 in Baltimore, MD, USA. This innovative ... their knowledge and experience in process development, crystallization, safety, scale-up, production, and emerging technologies. ... Columbia, MD ...
... Scientists at Queen,s University Belfast are developing new sensors to ... the fight against the threat of terrorist attacks. The ... or crime scene to gather a sample which is then ... of chemicals within seconds. This will allow better, faster decisions ...
... Batteries can power anything from small sensors to ... them smaller but even more powerful, problems can arise ... the devices themselves. University of Missouri researchers are developing ... more efficient. "To provide enough power, we need ...
Cached Biology Technology:17th International Process Development Conference to Feature Presentations on Safety, Process Development, Crystallization, PAT, Scale-Up and Production 2New technology detects chemical weapons in seconds 2Researchers create smaller and more efficient nuclear battery 2
ANTI-HUMAN CYTOKINES, GROWTH FACTORS (polyclonal rabbit (or goat) antibodies) Human TARC - Biotin...
Goat polyclonal to Factor VIII, prediluted ( Abpromise for all tested applications). Antigen: Full length native protein (purified) (Human): Factor VIII from blood. Entrez GeneID: 2157 Sw...
Chicken polyclonal to Thioredoxin domain containing 9 ( Abpromise for all tested applications). Antigen: Full length protein (Human) Entrez Gene ID: 10190 Swiss Protein ID: O14530...
Polyclonal antiserum raised against conjugated L-isoleucine. Available as antiserum. Amino Acid Antibodies...
Biology Products: