Navigation Links
Wayne State University researcher to study spinal muscular atrophy
Date:9/9/2011

DETROIT Graham Parker, Ph.D., assistant professor of research in the Department of Pediatrics at Wayne State University's School of Medicine, was awarded $418,000 from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health to study how a particular gene might be involved in the progression of spinal muscular atrophy (SMA) the number one genetic killer of children younger than 2 years old.

"Although most people have never heard of it, SMA is the most prevalent hereditary motor neuron disease, affecting four to 10 per 100,000 live births, with as many as one in 75 people being carriers of the genetic mutation," said Parker.

There is no cure for or treatment to slow the progression of SMA, but Parker and co-investigator Gyula Acsadi, M.D., Ph.D., associate professor of pediatrics and neurology, hope to clarify the role of alpha-synuclein (SNCA), which they believe is a potentially significant genetic biomarker of the neuromuscular disease. A better understanding of SNCA's role may help develop new therapies to treat SMA.

Spinal muscular atrophy is characterized by diseased motor neurons in the spinal cord. Typically, these motor neurons send signals to various muscles throughout the body, like those that control breathing. But in the diseased state, the neurons degenerate and die, resulting in muscle weakness of varied severity.

So, what causes the motor neurons to become diseased in the first place? "The genetic cause of SMA is well established: the lowering of survival motor neuron (SMN) protein, which exists in all cells," said Parker. "But we still have no idea why SMN loss specifically affects the motor neurons in this way."

Evidence from their previous research, however, points toward SNCA.

"Our analyses of SMN-deficient neuronal cells discovered that low levels of SMN are associated with reduced SNCA gene expression," he said. "Recent work has indicated that downregulation of SNCA can compromise the viability of neural cells."

In this study, Parker will put SNCA to the test. He aims to determine whether dramatically decreasing SNCA expression levels will mimic the motor neuron death observed under SMA conditions. He will then increase SNCA expression levels to see if this slows the progression of SMA.

Parker expects his findings to come with important implications for the discovery of new therapies. "The knowledge gained from this research is a highly desirable goal, potentially allowing us to identify more useful disease markers for future clinical trials, as well as develop new models to advance neuromuscular disease research," said Parker.


'/>"/>

Contact: Julie O'Connor
julie.oconnor@wayne.edu
313-577-8845
Wayne State University - Office of the Vice President for Research
Source:Eurekalert

Related medicine news :

1. Wayne State University awarded $3 million from NIH to foster science and research careers
2. Wayne State researcher receives NSF award to develop neural implants
3. Wayne State University engineering student receives American Tinnitus Association award
4. Wayne State University researcher argues that sex reduces genetic variation
5. Health providers should emphasize breast cancer screening, Wayne State University research finds
6. Religion benefits traumatic brain injury victims, Wayne State University research finds
7. Wayne State University researchers win grant from the NSF to target tinnitus
8. Wayne State researchers find new way to examine major depressive disorder in children
9. Wayne State leads study to improve management of cancer pain in African Americans
10. Wayne State study links testosterone with mens ability to woo potential mates
11. Wayne State University researchers publish results settling multiple sclerosis debate
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/24/2017)... ... May 24, 2017 , ... Dr. Alan I. Benvenisty, MD is dual ... City. He is known for his distinguished expertise and experience in the diagnosis and ... sub-specialty training in treating renovascular disease and aortic aneurysm . He is known ...
(Date:5/24/2017)... Cincinnati, OH (PRWEB) , ... May 24, 2017 , ... ... discreet and comfortable ClearCorrect orthodontics, with or without a referral. Dr. Kejriwal ... is why she offers convenient, clear braces in Cincinnati, OH. Patients no longer need ...
(Date:5/24/2017)... Las Vegas, NV (PRWEB) , ... May 24, ... ... Las Vegas, NV, recently completed Course II of the HP3 (High-Performance Periodontal Practice) ... commits himself to learning the latest advancements in his field by attending numerous ...
(Date:5/24/2017)... ... , ... If you are thinking of a visit to San Francisco , fall is ... perfect time to visit. , Business Architecture Associates is pleased to offer 5 days of ... a 4-½ day package for individuals, and as 4-½ day corporate package for up to ...
(Date:5/24/2017)... , ... May 24, 2017 , ... ... label food ingredient solutions for the food and beverage industry offers Citri-Fi®, a ... ingredient statements during the purchasing decision process. As a result, labels need to ...
Breaking Medicine News(10 mins):
(Date:5/4/2017)... , May 4, 2017  A new ... thermoplastics and other highly-engineered materials, is being launched ... tubing has been developed in recent years to ... therapies and surgical applications. More expensive materials such ... produce microextrusion tubing due to their ability to ...
(Date:5/3/2017)... ORANGE COUNTY, Calif. , May 3, 2017 ... vital aspect of any hospital or healthcare facility. ... of examination room is equipped with diagnostic imaging ... and arteries of the heart. In these spaces, ... coronary angiography, catheterization, balloon angioplasty, percutaneous coronary intervention, ...
(Date:5/3/2017)... May 3, 2017  Getinge, a leading global ... quality enhancement and cost efficiency within healthcare and ... of contemporary practice demonstrating that intra-aortic balloon counterpulsation ... critically ill patients. The single-center, retrospective, observational study ... volume MEGA ® 50cc intra-aortic balloon (IAB) ...
Breaking Medicine Technology: