Navigation Links
Spinal muscular atrophy may also affect the heart
Date:8/10/2010

Along with skeletal muscles, it may be important to monitor heart function in patients with spinal muscular atrophy (SMA). These are the findings from a study conducted by Nationwide Children's Hospital and published online ahead of print in Human Molecular Genetics. This is the first study to report cardiac dysfunction in mouse models of SMA.

SMA is a debilitating neurological disease that leads to wasting away of muscles throughout the body. Historically, scientists and physicians believed that SMA only affected skeletal muscles; however, new data suggests that this genetic disease may also impact the heart.

"A few studies regarding SMA patients have implicated the involvement of the cardiovascular and the autonomic nervous system," said the study's co-author Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children's Hospital. "However, there have been few to no highly powered and controlled studies to determine how common these cardiovascular anomalies are in these patients."

The reports of altered blood flow and slowed heart rate in some SMA patients prompted Kaspar's team to examine whether a cardiac deficit is present in a mouse model of severe SMA, developed by Arthur Burghes, PhD, professor of Molecular and Cellular Biochemistry at The Ohio State University College of Medicine, which is routinely used for drug and therapeutic-based screening.

They analyzed heart structure of the SMA mice compared with normal mice, and found that there were significant structural changes occurring in the heart of the SMA mice, along with severely impaired left-ventricular function. SMA mice also had significantly lower heart rates. After examining the underlying structure of the mouse heart cells they found it similar to the cellular structure of a heart biopsy from patient with type 3 SMA.

Kaspar's team recently developed a gene therapy approach shown to successfully deliver the missing SMN protein to SMA mice and improve neuromuscular function. Next, the team studied whether the discovered heart defects could be corrected by this gene delivery treatment. Results showed that restoring SMN levels completely restored heart rates and prevented the early development of dilated cardiomyopathy.

Pam Lucchesi, PhD, director of the Center for Cardiovascular and Pulmonary Research at The Research Institute at Nationwide Children's Hospital and study co-author, says it is still not clear which mechanisms are fully responsible for the heart deficits seen in the SMA mice, but data suggests that neuronal, autonomic and developmental components all may play a role.

"Our gene delivery strategy has unique advantages in that it targets neurons within the central and peripheral nervous system as well as the cardiac tissues," said Lucchesi, also a faculty member at The Ohio State University College of Medicine.

More research is needed to determine whether the cardiac deficits are unique to the mouse or whether SMA patient of various severities have or will develop similar issues. Still, Kaspar, also on the faculty at The Ohio State University College of Medicine, says clinicians should be acutely aware of potential heart dysfunction in a subset of SMA patients.

"Increasing reports of autonomic dysfunction together with our current findings warrant increased attention to the cardiac status of SMA patients, and potentially highlights the need to investigate cardiac interventions alongside neuromuscular treatments," said Kaspar.


'/>"/>

Contact: Erin Pope
Erin.Pope@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

Related medicine news :

1. In breakthrough, nerve connections are regenerated after spinal cord injury
2. Brainstem, spinal cord images hidden in Michelangelos Sistine Chapel fresco
3. Social Security Disability Benefits Can Be Crucial to Surviving With Spinal Cord Injury, Allsup Reports
4. CELLING Treatment Centers New Clinic Revolutionizes Spinal Care with Adult Stem Cells
5. US Department of Defense helps move spinal cord injury treatment closer to clinical trials
6. Spinal cord stimulation may benefit Parkinsons patients
7. Improving recovery from spinal cord injury
8. U of A discovery offers promising research for spinal-cord injury treatments
9. Dive Safely -- Or Risk Spinal Cord Damage
10. Spinal Surgery a Risk for Tiger
11. Singapore Embraces Minimally Invasive Spinal Surgery
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/31/2016)... ... 31, 2016 , ... "ProDrop 3D Abstract will spark new innovative ideas for ... Austin - CEO of Pixel Film Studios. , Create an abstract backdrop animation ... ability to generate and manipulate three-dimensional shapes with ease all within Final Cut Pro ...
(Date:5/31/2016)... ... May 31, 2016 , ... Fire ... CDC, has joined the Fire Door Solutions’ team. Keith will serve Fire ... and frame in-field re-labeling. He will be instrumental in developing educational curriculum ...
(Date:5/31/2016)... ... , ... Splashtop Inc., the worldwide leader in high performance cross-screen access, ... leading provider of secure mobile remote access solution for Japan enterprises. , ... solution. Splashtop for CACHATTO will be available as an integrated add-on secure ...
(Date:5/31/2016)... ... May 31, 2016 , ... DDL, Inc. announced today it has expanded ... (A2LA) to include ISO 594-1 and ISO 594-2 testing for conical (Luer) fittings. ... connection between two medical devices (e.g. a syringe and hypodermic needle) that carry small ...
(Date:5/31/2016)... ... May 31, 2016 , ... Like jewels in a crown, the multiple ... London is home to Ontario’s leading day spa and one of Canada’s few accredited ... with a unique concept to combine spa services with hair and beauty services ...
Breaking Medicine News(10 mins):
(Date:5/31/2016)... May 31, 2016 The global ... progressing at a CAGR of 10.6% within a forecast ... at US$0.46 bn in 2013. Owing to favorable factors ... reach US$0.88 bn by the end of this forecast ... the market,s holistic representation in a research report published ...
(Date:5/31/2016)... , May 31, 2016 CollPlant Ltd. (TASE: ... rhCollagen technology for tissue repair products - announces that ... Israel,s Ministry of Economy, for ... project for 2016. The Chief Scientist,s grant amount to NIS ... which totaled NIS 4.7 million.  The development ...
(Date:5/30/2016)... 2016 According to ... Market by Technology (Single-factor (Fingerprint, Face, Iris, ... (Workforce Management), End User (Hospitals, Healthcare Institutions) ... MarketsandMarkets, the market is projected to reach ... 1,182.6 Million by 2016, at a CAGR ...
Breaking Medicine Technology: