Spinal muscular atrophy may also affect patient’s heartAugust 12th, 2010 - 5:02 pm ICT by ANI
Washington, Aug 12 (ANI): A new study suggests that it may be important to monitor heart function in patients with spinal muscular atrophy (SMA) along with skeletal muscles.
The study, conducted by Nationwide Children’s Hospital, is the first 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. However, there have been few to no highly powered and controlled studies to determine how common these cardiovascular anomalies are in these patients,” study’s co-author Brian Kaspar, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital said.
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.
Results showed that restoring SMN levels completely restored heart rates and prevented the early development of dilated cardiomyopathy.
Pam Lucchesi, director of the Center for Cardiovascular and Pulmonary Research at The Research Institute at Nationwide Children’s Hospital and study co-author, said that 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,” Lucchesi said.
“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,” Kaspar said.
The study was published in Human Molecular Genetics. (ANI)
- Drug candidate for treating spinal muscular atrophy identified - Nov 05, 2009
- Chemical in soap, toothpaste impairs muscle strength - Aug 14, 2012
- Unknown factor in heart failure found - Feb 02, 2010
- New mechanism linked to heart failure identified - Feb 02, 2010
- Gene therapy shows promise in muscular dystrophy battle - Nov 12, 2009
- Molecular 'playbook' to stop heart failure risk factor found - Sep 24, 2010
- Improving treatment and averting heart failure in kids - Apr 24, 2010
- New blood test to diagnose heart attacks - Sep 21, 2011
- How physical activity grows a healthy heart - Dec 24, 2010
- Second gene linked with specific congenital heart defects identified - Apr 30, 2011
- One in 25 Indians carries gene that triggers heart failure - Jun 10, 2010
- Potential treatment target for congenital heart disease identified - Feb 22, 2011
- Legs - vital clues in heart failure - Nov 01, 2011
- New approach could reverse liver failure - Aug 06, 2012
- Heartbeat may offer insight into kidney health - Jul 09, 2010
Tags: autonomic nervous system, cardiac dysfunction, cellular biochemistry, college of medicine, delivery strategy, developmental components, gene delivery, heart function, heart rates, mouse models, neurological disease, ohio state university, ohio state university college of medicine, phd professor, pulmonary research, s hospital, screening results, skeletal muscles, sma patients, spinal muscular atrophy