MSU scientists put some muscle behind their research

May 06, 2016

EAST LANSING, Mich. - Michigan State University researchers used an old-fashioned neurobiology technique to explore new avenues for treatments to reverse a late-onset neurodegenerative disease that robs men of the capacity to walk, run, chew and swallow.

The results were recently published in the Journal of Neuroscience.

The MSU team has identified new molecular targets for recovering motor function in men afflicted with spinal and bulbar muscular atrophy. Also known as Kennedy's disease - named after the physician who discovered it in the 1960s - SBMA is a rare, recessive X-linked disease men inherit from their mothers. While SBMA is not typically lethal - that is, life span is on average normal - quality of life is profoundly affected.

The innovation in the MSU study led by Youfen Xu, senior research associate in MSU's Neuroscience Program, was her challenging of the current dogma: the assumption that motor dysfunction in SBMA is caused by degeneration of motoneurons. By studying recordings from muscle fibers, the researchers listened in on how disease affects the function of neuromuscular synapses in three different mouse models of SBMA. Xu hypothesized that if motor dysfunction is not caused by loss of motoneurons, then perhaps synaptic drive at the neuromuscular junction fails. Indeed, this is what she found.

"When I joined Cindy Jordan's research project to study the electrophysiological features of neuromuscular transmission in SBMA mouse models, I was surprised to find that no one in the field had yet looked to see whether the function of neuromuscular synapses was affected, and I was equally surprised to find that virtually all aspects of their function are disrupted," Xu said. "The fact that we find pretty much the same kind of dysfunction across three quite different mouse models of SBMA makes me suspect that we have stumbled on to core attributes of the disease in humans."

In addition to Xu, the research team includes Cynthia Jordan, MSU professor of physiology and associate director of the Neuroscience Program; Casey Henley, academic specialist in the program; and Kathy Halievski, Ph.D. student.

Jordan said that these findings have caused a paradigm shift in the field and that, as a result of this work, scientists are now focusing on muscle as really driving the disease.

"This is exciting because gene therapy is possible for muscle; it's not really possible for motor neurons that are housed in bone inside the spinal cord," Jordan said. "Finding critical mechanisms in muscle - where the neuromuscular junction resides - means that we have, for the first time, uncovered accessible targets for potential treatments to reverse the disease."
The research was funded by the National Institutes of Health.

Michigan State University has been working to advance the common good in uncommon ways for more than 150 years. One of the top research universities in the world, MSU focuses its vast resources on creating solutions to some of the world's most pressing challenges, while providing life-changing opportunities to a diverse and inclusive academic community through more than 200 programs of study in 17 degree-granting colleges.

For MSU news on the Web, go to MSUToday. Follow MSU News on Twitter at

Michigan State University

Related Neuroscience Articles from Brightsurf:

Researchers rebuild the bridge between neuroscience and artificial intelligence
In an article in the journal Scientific Reports, researchers reveal that they have successfully rebuilt the bridge between experimental neuroscience and advanced artificial intelligence learning algorithms.

The evolution of neuroscience as a research
When the first issue of the JDR was published, the field of neuroscience did not exist but over subsequent decades neuroscience has emerged as a scientific field that has particular relevance to dentistry.

Diabetes-Alzheimer's link explored at Neuroscience 2019
Surprising links exist between diabetes and Alzheimer's disease, and researchers are beginning to unpack the pathology that connects the two.

Organoid research revealed at Neuroscience 2019
Mini-brains, also called organoids, may offer breakthroughs in clinical research by allowing scientists to study human brain cells without a human subject.

The neuroscience of autism: New clues for how condition begins
UNC School of Medicine scientists found that a gene mutation linked to autism normally works to organize the scaffolding of brain cells called radial progenitors necessary for the orderly formation of the brain.

Harnessing reliability for neuroscience research
Neuroscientists are amassing the large-scale datasets needed to study individual differences and identify biomarkers.

Blue Brain solves a century-old neuroscience problem
In a front-cover paper published in Cerebral Cortex, EPFL's Blue Brain Project, a Swiss Brain Research Initiative, explains how the shapes of neurons can be classified using mathematical methods from the field of algebraic topology.

Characterizing pig hippocampus could improve translational neuroscience
Researchers have taken further steps toward developing a superior animal model of neurological conditions such as traumatic brain injury and epilepsy, according to a study of miniature pigs published in eNeuro.

The neuroscience of human vocal pitch
Among primates, humans are uniquely able to consciously control the pitch of their voices, making it possible to hit high notes in singing or stress a word in a sentence to convey meaning.

Study tackles neuroscience claims to have disproved 'free will'
For several decades, some researchers have argued that neuroscience studies prove human actions are driven by external stimuli -- that the brain is reactive and free will is an illusion.

Read More: Neuroscience News and Neuroscience Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to