Spinal muscular atrophy may also affect patient's heart

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)