Featured Research

from universities, journals, and other organizations

Researchers confirm prenatal heart defects in spinal muscular atrophy cases

Date:
October 10, 2010
Source:
University of Missouri-Columbia
Summary:
Researchers believe they have found a critical piece of the puzzle for the treatment of spinal muscular atrophy (SMA) -- the leading genetic cause of infantile death in the world. Nearly one in 6,000 births has SMA, and it is estimated that nearly one in 30 to 40 people have the trait that leads to SMA.

University of Missouri researchers believe they have found a critical piece of the puzzle for the treatment of Spinal Muscular Atrophy (SMA) -- the leading genetic cause of infantile death in the world. Nearly one in 6,000 births has SMA, and it is estimated that nearly one in 30 to 40 people have the trait that leads to SMA.

In a new study in Human Molecular Genetics, Christian Lorson, professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology, has found prenatal cardiac defects in mice with SMA. Lorson believes this discovery has implications for eventual treatment as clinicians can no longer concentrate exclusively on the nervous system when treating SMA.

Lorson's research team, headed by Monir Shababi, research scientist, examined two animal models of SMA and discovered that cardiac defects are found throughout SMA development and include neonatal fibrosis in the heart, ventricle malformation, thinning of the cardiac wall and slower heart rates.

"It is likely that in severe cases of SMA, the disease is not limited to motor neurons; rather, it becomes a multisystem disease, and the cardiac contribution is just one of the systems," said Lorson, who works in the MU Bond Life Sciences Center. "These results are consistent with clinical reports of severe SMA cases that describe a number of cardiac defects. To fully address this disease, any new therapies or drugs must be effective in every tissue, not just motor neurons. The more we understand the disease, the better off we will be in terms of developing therapeutics or better supportive care. What this conservatively means for humans is that therapies have to go beyond the nervous system in the most severe and most profound cases."

Spinal muscular atrophy is caused by loss of a gene known as SMN1. Humans have an additional gene called SMN2 which only makes a small amount of the normal SMN protein -- the protein required to prevent SMA. SMN1 and SMN2 are greater than 99 percent identical, but a small difference between the two causes the dramatic difference in the amount of functional protein produced by SMN2.

Typically, the disease moves from the outlying limbs into the trunk of the body. Most deaths are caused by respiratory failure in the lungs. Researchers have been targeting SMN2 -- what Lorson calls the "partially functioning backup copy" -- because any increase in SMN2 means better results.

"SMN2 is like a light that's been dimmed, and we're trying anything to get it brighter. Even turning it up a little bit would likely help dramatically," Lorson said.


Story Source:

The above story is based on materials provided by University of Missouri-Columbia. Note: Materials may be edited for content and length.


Journal Reference:

  1. M. Shababi, J. Habibi, H. T. Yang, S. M. Vale, W. A. Sewell, C. L. Lorson. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Human Molecular Genetics, 2010; DOI: 10.1093/hmg/ddq329

Cite This Page:

University of Missouri-Columbia. "Researchers confirm prenatal heart defects in spinal muscular atrophy cases." ScienceDaily. ScienceDaily, 10 October 2010. <www.sciencedaily.com/releases/2010/09/100928111134.htm>.
University of Missouri-Columbia. (2010, October 10). Researchers confirm prenatal heart defects in spinal muscular atrophy cases. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2010/09/100928111134.htm
University of Missouri-Columbia. "Researchers confirm prenatal heart defects in spinal muscular atrophy cases." ScienceDaily. www.sciencedaily.com/releases/2010/09/100928111134.htm (accessed October 1, 2014).

Share This



More Health & Medicine News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pregnancy Spacing Could Have Big Impact On Autism Risks

Pregnancy Spacing Could Have Big Impact On Autism Risks

Newsy (Oct. 1, 2014) A new study says children born less than one year and more than five years after a sibling can have an increased risk for autism. Video provided by Newsy
Powered by NewsLook.com
Robotic Hair Restoration

Robotic Hair Restoration

Ivanhoe (Oct. 1, 2014) A new robotic procedure is changing the way we transplant hair. The ARTAS robot leaves no linear scarring and provides more natural results. Video provided by Ivanhoe
Powered by NewsLook.com
Insertable Cardiac Monitor

Insertable Cardiac Monitor

Ivanhoe (Oct. 1, 2014) A heart monitor the size of a paperclip that can save your life. The “Reveal Linq” allows a doctor to monitor patients with A-Fib on a continuous basis for up to 3 years! Video provided by Ivanhoe
Powered by NewsLook.com
Attacking Superbugs

Attacking Superbugs

Ivanhoe (Oct. 1, 2014) Two weapons hospitals can use to attack superbugs. Scientists in Ireland created a new gel resistant to superbugs, and a robot that can disinfect a room in minutes. Video provided by Ivanhoe
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins