Navigation Links
Researchers find new gene mutation associated with congenital myopathy
Date:7/25/2012

Ann Arbor, Mich. University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

About 50% of congenital myopathy cases currently do not have a known genetic basis, presenting a clear barrier to understanding disease and developing therapy, says James Dowling, M.D., Ph.D., the paper's co-senior author and assistant professor of Pediatric Neurology at the University of Michigan's C.S. Mott Children's Hospital. Finding a new myopathy gene opens the possibility of providing a genetic explanation for disease in these individuals where no genetic cause is currently known.

In addition, "the identification of a new myopathy gene is an essential first step towards understanding why this disease occurs and how we combat its effects." says Dowling, who worked with Margit Burmeister, Ph.D. and her team from the University of Michigan's Molecular and Behavioral Neuroscience Institute to study the new myopathy gene (CCDC78).

Dowling says the gene, which has not been studied previously, is an important potential regulator of muscle function and, in particular, part of an important muscle structure called the triad.

"Many myopathies and dystrophies have abnormal triad structure/function, so finding a new gene product involved in its regulation will help researchers better understand the triad and its relationship to muscle disease," Dowling says.

Congenital myopathies are clinically and genetically heterogeneous diseases that typically become evident in childhood with hypotonia and weakness. They are associated with impaired mobility, progressive scoliosis, chronic respiratory failure and often early death.

Currently there are no known treatments or disease modifying therapies for congenital myopathies.

The researchers performed linkage analysis followed b
'/>"/>

Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Page: 1 2

Related biology news :

1. Study by UC Santa Barbara researchers suggests that bacteria communicate by touch
2. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
3. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
4. UNH researchers find African farmers need better climate change data to improve farming practices
5. Ottawa researchers to lead world-first clinical trial of stem cell therapy for septic shock
6. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
7. Researchers print live cells with a standard inkjet printer
8. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
9. Researchers reveal how a single gene mutation leads to uncontrolled obesity
10. Researchers discover novel therapy for Crohns disease
11. New paper by Notre Dame researchers describes method for cleaning up nuclear waste
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/22/2015)... POINT ROBERTS, Washington , January 20, 2015 ... technology and tech stocks, releases video from the CES 2015 ... security consultant Apollo Robbins . Apollo shows ... Wocket™ biometric smart wallet, a product of NXT-ID, Inc. (NASDAQ: ...
(Date:1/22/2015)... EyeLock, Inc. , a market leader of iris-based identity authentication ... to the new role of Senior Vice President of Mobile ... mobile platforms and wearable solutions for EyeLock,s technologies. Gerber brings ... semiconductor industry to his role at EyeLock, with expertise in ...
(Date:12/22/2014)... and Markets ( http://www.researchandmarkets.com/research/fx4bg3/the_global ) has ... Watermarking and Fingerprinting Markets" report to their ... This insight provides an overview of ... Watermarking aims to control and monitor piracy by ...
Breaking Biology News(10 mins):Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 2Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 3EyeLock Names Steve Gerber as Senior Vice President of Mobile and Wearables 2The Global Watermarking and Fingerprinting Markets 2
... community continues to make positive strides in personalized cancer therapy, ... specific genes in cancerous cells are effective, but not all ... as few as 10 to 15 percent of human proteins ... researchers are focusing on ways to fight cancer by attacking ...
... different individuals is a more efficient way to get things ... human. A new study by researchers at Michigan State ... suggests that this efficiency may also explain a key transition ... results, which can be found in the current issue of ...
... a personal assistant - computers are ubiquitous. Yet the ... be desired: they rapidly become obsolete, typically contain toxic ... are difficult to recycle. Moreover, they consume plenty of ... CO2 into the atmosphere. Employees at the MicroPro ...
Cached Biology News:Using millions of years of cell evolution in the fight against cancer 2Division of labor offers insight into the evolution of multicellular life 2Eco-computer with a natural wood look 2
(Date:12/24/2014)... SPRING, Md. , Dec. 24, 2014  United Therapeutics ... Medtronic, Inc. (NYSE: MDT ) has submitted ... Drug Administration (FDA) for the use of Medtronic,s SynchroMed ... newly developed catheter) for use with United Therapeutics, Remodulin ...
(Date:12/24/2014)... Texas , Dec. 24, 2014  Vermillion, Inc. ... on gynecologic disease, announced today that the Company ... including Oracle Investment Management, Jack W. Schuler ... Total proceeds were $10.5 million, before offering expenses.  ...
(Date:12/24/2014)... December 23, 2014 “Preparative & ... HPLC, Flash), Consumables (Columns, Solvents, Buffers, Valves, Guages, ... & Agriculture) - Forecasts to 2019” provides a ... opportunities, current market trends, and strategies impacting the ...
(Date:12/24/2014)... 2014 Earlier this year in a June ... the Adult Stem Cell Technology Center, LLC ( ASCTC ) ... property of adult tissue stem cells. His title “Asymmetric ... for the Future,” embodied the essence of his message to ...
Breaking Biology Technology:United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 2United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 3United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 4Vermillion Announces Closing of Equity Financing 2Vermillion Announces Closing of Equity Financing 3Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 2Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 3Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 4Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 2Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 3Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 4
... Kit is a simple high performance method ... Removes detergents without significant dilution of protein ... on the Detergent-OUT Spin column and collect ... are suitable for removing detergent from a ...
... tissue microarrays are derived from Paraffin embedded ... quality control procedures to ensure the highest ... assembled in one block, sectioned at a ... coated slides. Sections are large (3-5 mm ...
... derived from Paraffin embedded tissue blocks, which ... to ensure the highest quality. Tissues of ... block, sectioned at a thickness of 5 ... are large (3-5 mm in diameter) in ...
... tissue microarrays are derived from frozen embedded ... quality control procedures to ensure the highest ... assembled in one block, sectioned at a ... slides. Sections are large (3-5mm in diameter) ...
Biology Products: