“Typical spinal muscular atrophies begin in infancy or early childhood and are fatal, involving all motor neurons, but SMA-LED predominantly affects nerve cells controlling muscles of the legs. It is not fatal and the prognosis is good, although patients usually are moderately disabled and require assistive devices such as bracing and wheelchairs throughout their lives,” said Robert H. Baloh, MD, PhD, director of Cedars-Sinai Medical Center’s Neuromuscular Division and senior author of a Neurology article describing the new findings on DYNC1H1.
It is a molecule inside cells that acts as a motor to transport cellular components. Using cells cultured from patients, Baloh’s group showed that the mutation disrupts this motor’s function. The researchers found that some subjects with mutations had global developmental delay in addition to weakness, indicating the brain also is involved.
“Our observations suggest that a range of DYNC1H1-related disease exists in humans – from a widespread neurodevelopmental abnormality of the central nervous system to more selective involvement of certain motor neurons, which manifests as spinal muscular atrophy,” Baloh said.
He pointed out that while this molecule is responsible for some inheritable cases of spinal muscular atrophy with lower extremity predominance, the genetic mutation is absent in others. The search continues, therefore, to find other culprit genetic mutations and develop biological therapies to correct them.
“Although this is a rare form of motor neuron disease, it tells us that dynein function – the molecular motor – is crucial for the development and maintenance of motor neurons, which we hope will provide insight into the common form of spinal muscular atrophy and also amyotrophic lateral sclerosis,” Baloh said. ALS (also known as Lou Gehrig’s disease) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.
Baloh, an expert in treating and studying neuromuscular and neurodegenerative diseases, joined Cedars-Sinai in early 2012, working with other physicians and scientists in the Department of Neurology and the Regenerative Medicine Institute to establish one of the most comprehensive neuromuscular disease treatment and research teams in California.
The study was supported by the BJC Institute for Clinical and Translational Sciences, the Children’s Discovery Institute, the National Institutes of Health, the Hope Center for Neurological Disorders, the Muscular Dystrophy Association, the Charcot Marie Tooth Association, the Columbia University Motor Neuron Center and the Burroughs Wellcome Fund.
One of the article’s other authors reports serving on the scientific advisory board of the Myositis Association; receiving revenue and speaker honoraria from Athena; owning stock in Johnson & Johnson; directing the Washington University Neuromuscular Clinical Laboratory, and receiving research support from NIH, MDA and other groups.
Citation: Neurology, March 28, 2012, published online ahead of print: “Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.”
Sandy Van | Cedars-Sinai News
‘Farming’ bacteria to boost growth in the oceans
24.10.2016 | Max-Planck-Institut für marine Mikrobiologie
Calcium Induces Chronic Lung Infections
24.10.2016 | Universität Basel
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
24.10.2016 | Earth Sciences
24.10.2016 | Life Sciences
24.10.2016 | Physics and Astronomy