Dr. John Bach (left), Professor of Physical Medicine and Rehabilitation and Professor of Neurosciences at UMDNJ-New Jersey Medical School, is currently conducting a FightSMA funded study entitled “Autonomic Dysfunction in Childhood Onset Spinal Muscular Atrophy.” While autonomic dysfunction in spinal muscular atrophy (SMA) patients has been recognized in clinical practice, it has not been officially studied or reported in literature. Dr. Bach and FightSMA hope to expand the understanding of the relationship between SMA and autonomic dysfunction with this study.

According to Dr. Bach, “about 20% of children with SMA type 1 and 2 have slowing of heart rate below 60 beats per minute. At times the slowing is to below 40 beats per minute and results in loss of consciousness.” Dr. Bach goes on to explain that in some cases children have died suddenly because their heart rates dropped to zero. Heart rate is largely controlled by the “autonomic nervous system” (ANS) which is divided into two systems, the sympathetic and the parasympathetic. The sympathetic part causes the heart to speed up and the parasympathetic causes the heart to slow down. An imbalance between the two parts can result in a heart arrhythmia (a disturbance in the rhythm of the heartbeat) and can cause the heart to stop. Dr. Bach explains:

“Slowing, what we call “bradycardias”, can be a reaction to the heart “racing”, a “tachycardia”. Thus, anything that causes the heart rate to speed up like a fever, mucus plug, or excitement, that is, sympathetic stimulation, might result in a reactive bradycardia. Bradycardias can also occur without a tachycardia. In this case it would be from too little sympathetic activity to counter balance parasympathetic stimulation…The purpose of our study is to determine the sympathetic-parasympathetic balance of the innervations of the heart to help us figure this out.”

Using noninvasive equipment to record heart rate variability and respirations, the study compares the ANS activity of 100 SMA patients to the ANS of 100 control subjects of matching age and gender. Analysis of the data gathered may help identify autonomic dysfunction and determine treatment strategies. Dr. Bach continues to receive SMA patients for this study at his office in New Jersey.

For more information, please contact:
John R. Bach, MD
Physical Medicine and Rehabilitation
University of Medicine & Dentistry of New Jersey
90 Bergen Street, DOC 3100
Newark NJ 07103
Practice Phone: 973-972-2802
Email: bachjr@umdnj.edu
Website: www.doctorbach.com

Scientists in Japan and the United States recently announced a scientific breakthrough that could induce human skin cells to act as embryonic stem cells do. From the New York Times November 27th article “After Stem-Cell Breakthrough, the Work Begins:”

Biologists were electrified on Tuesday, when scientists in Japan and Wisconsin reported that they could turn human skin cells into cells that behave like embryonic stem cells, able to grow indefinitely and to potentially turn into any type of tissue in the body.

The discovery, if it holds up, would decisively solve the raw material problem. It should provide an unlimited supply of stem cells without the ethically controversial embryo destruction and the restrictions on federal financing that have impeded work on human embryonic cells.

But scientists still face the challenge of taking that abundant raw material and turning it into useful medical treatments, like replacement tissue for damaged hearts and brains. And that challenge will be roughly as daunting for the new cells as it has been for the embryonic stem cells.

“Even though we have this nice new sources of cells, it doesn’t solve all the downstream problems of getting them into the body in useful form,” said James A. Thomson of the University of Wisconsin, who led one of the teams that developed the stem cell substitutes. Dr. Thomson was also the first to isolate human embryonic stem cells, about a decade ago.

Still, the new discovery should accelerate progress — if only because with the ethical issues seemingly out of the way, more scientists and money will be drawn to the field.

To read the whole article, click here.

Dr. Douglas Kerr, Associate Professor of Neurology, Molecular Microbiology and Immunology at Johns Hopkins and member of the FightSMA Scientific Advisory Board shares his thoughts on this important development:

I think the iPS studies are tremendously exciting. These are important studies for several reasons. First, it may make for a fairly quick way to derive cells from patients with genetic diseases and to create in vitro models of these diseases by differentiating them into relevant cell types. We could learn a lot mechanistically about these diseases and we could initiate high throughput screening to develop new treatments. Secondly, this could ultimately mean we could autologously transplant patients by making pluripotent stem cells from a patient’s own somatic cells, differentiating those cells into cell damaged by disease and transplanting them. Genetically identical, no risk of infection or immune rejection. But even if this new science is replicated and widely achievable, it is a decade or more to first in human. The ‘cocktail’ for reprogramming skin cells involves viral delivery of 4 genes, including oncogenes given by viral delivery. So, there are several things to worry about. 1) skin cells and indeed all somatic cells have gone through many cell doublings by the time they terminally differentiate. If you de-differentiate them and ask them to be ES-like cells, they go through many more cell doublings in cell culture. Each cell doubling raises the chance of mutations, telomere shortening and the other cellular features of old age. 2) What if the oncogenes used to reprogram the stem cells cannot be controlled and cause cancer? Pluripotency in normal ES cells exists within a developmental program and is regulatable/controllable. Pluriptency in these artificial ES-like cells is likely to be not regulatable and especially with the problems noted above, cancers more likely. 3) the clinical hurdles required for cell therapies with 4 viral vector gene therapies to make these cells pluripotent is going to be far more complex than normal ES cells.