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:4/17/2014)... Clemson professor Rajendra Singh Thursday as a "Champion ... expand solar deployment in the residential, commercial and ... Professor of Electrical and Computer Engineering and director ... a local hero leading the charge across the ... solar power and driving policy changes at the ...
(Date:4/17/2014)... on a novel method to help kidney stone ... effective treatment possible., Kidney stones represent a major ... If left untreated, apart from being particularly painful, ... complications. In many patients treated successfully, stone recurrence ... pathological approach to diagnosis and treatment needs to ...
(Date:4/17/2014)... researchers have detected new early-warning signs of the potential ... have far-reaching implications for the diagnosis and treatment of ... million Americans. , "We had not expected to see ... stages," said Ann Elsner, professor and associate dean in ... the study. "We set out to study the early ...
Breaking Biology News(10 mins):White House honors Clemson professor as 'Champion of Change' for solar deployment 2New technique detects microscopic diabetes-related eye damage 2New technique detects microscopic diabetes-related eye damage 3
... step in the ongoing battle against secondhand tobacco smoke. They ... immediately detect the presence of secondhand smoke and even third-hand ... about the size of a matchbox car, the device uses ... A sensor chip then records the data on an SD ...
... University] A key advance, newly reported by chemists ... cheaper and more sustainable way to make acrylate, an ... fabrics to diapers. Chemical companies churn out billions ... propylene, a compound derived from crude oil. "What we,re ...
... after the FDA approved Kalydeco (Vx-770), the first drug of ... University of Missouri researchers believe they have found exactly how ... the future. Described in the current issue of the ... have redefined a key regulatory process in the defective protein ...
Cached Biology News:Scientists create new tools for battling secondhand smoke 2Scientists create new tools for battling secondhand smoke 3Breakthrough could lead to cheaper, more sustainable chemical production 2Discovery could increase efficacy of promising cystic fibrosis drug 2Discovery could increase efficacy of promising cystic fibrosis drug 3Discovery could increase efficacy of promising cystic fibrosis drug 4
(Date:1/15/2014)... 15, 2014 Two champions of science, ... sponsorship of an annual competition for middle and high ... to, innovative STEM study. The competition presents students with ... of Engineering Aptitude, Mathematics, and Sciences is a ...
(Date:1/15/2014)... Freeslate, Inc ., the leading provider of ... one of India’s top five pharmaceutical companies, has received ... for high throughput solid form screening. , Lupin, ... range of quality, affordable generic and branded formulations and ...
(Date:1/14/2014)... 2014 Carahsoft and CDS Federal Services ... 2014 at 2pm EST (11am PST), “Natural Language Processing: ... on how technology can turn raw, heterogeneous data into ... agencies. The online webinar will last approximately one hour. ...
(Date:1/14/2014)... 2014 EquitiesIQ, a leading informational research ... Alliqua is an emerging biomedical company acquiring, developing, manufacturing, ... market. , Free report download: http://equitiesiq.com/reports/alliqua/ , ... management team and Board, which launched the company’s new ...
Breaking Biology Technology:Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 2Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 3Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 4Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 5Lupin Selects Freeslate’s CM Protégé PharmD System to Accelerate Polymorph Screening for Drug Development 2Lupin Selects Freeslate’s CM Protégé PharmD System to Accelerate Polymorph Screening for Drug Development 3Webcast - Natural Language Processing: Converting Raw Data into Actionable Knowledge – Hosted by Carahsoft and CDS Federal Services 2EquitiesIQ Initiates Coverage of Alliqua, Inc. 2EquitiesIQ Initiates Coverage of Alliqua, Inc. 3
... Mental Health Programs Supported by a Grant from Otsuka ... America Pharmaceutical, Inc., ... named three nonprofit organizations and one individual,as the recipients of the ... presented at the 2008 APF Annual Benefit in,Washington, D.C. Each organization ...
... the patient,s own whole blood, SOMERS, Conn., May ... the health professionals who manage patients on heart and,lung ... Blood,Resources, online waste calculator can be used to estimate ... machines most commonly used,during heart surgery to salvage the ...
... and some clever chemistry, University of California, Berkeley, researchers ... the sugar coating on their cells. , This novel ... that coat cells is a new tool for those ... because its transparent embryos allow easy observation of living ...
Cached Biology Technology:American Psychiatric Foundation Announces Recipients of 2008 Awards for Advancing Minority Mental Health 2American Psychiatric Foundation Announces Recipients of 2008 Awards for Advancing Minority Mental Health 3American Psychiatric Foundation Announces Recipients of 2008 Awards for Advancing Minority Mental Health 4American Psychiatric Foundation Announces Recipients of 2008 Awards for Advancing Minority Mental Health 5Global Blood Resources' On-Line Calculator Reveals Wasted Blood Costs by Blood Salvage Machines During Heart Surgery to be in the Billions 2Global Blood Resources' On-Line Calculator Reveals Wasted Blood Costs by Blood Salvage Machines During Heart Surgery to be in the Billions 3Glowing zebrafish help researchers track role of sugars in the cell 2Glowing zebrafish help researchers track role of sugars in the cell 3
... This kit allows for quick and reproducible immunoprecipitation ... The system is more reproducible than regular IPs, ... protein A/G agarose without disrupting the agarose bed. ... and Release is reversible, and elution of the ...
... Polyclonal Antibody, Unconjugated ... a dilution of 1/100. IP: Use ... Use at an assay dependent dilution. ... tested in other applications. Optimal ...
Membrane Proteins from over 50 different human Alzheimer, Diabetic, Liver Cirrhosis, and Lupus diseased tissues are available....
... Using multicolor analysis in a modern flow ... cells that are differentially labeled with fluorescent ... dyes typically used for cell labeling are ... by a flow cytometers filters. Thus, the ...
Biology Products: