Mizzou Advances New Drug for Incurable Neuromuscular Disorder
- Researchers at the University of Missouri have identified a previously unknown genetic disease that affects movement and muscle control, providing a new target for potential therapeutic intervention.
- The discovery, led by Shinghua Ding, a professor in Mizzou’s College of Engineering, was published in the journal Science Advances under the title A sensory and motor neuropathy...
- MINA syndrome primarily damages motor neurons, which are the nerve cells responsible for transmitting signals from the spinal cord and brain to the muscles.
Researchers at the University of Missouri have identified a previously unknown genetic disease that affects movement and muscle control, providing a new target for potential therapeutic intervention. The condition, named Mutation in NAMPT Axonopathy (MINA) syndrome, is caused by a rare genetic mutation in a protein called NAMPT, which is essential for how cells produce and utilize energy.
The discovery, led by Shinghua Ding, a professor in Mizzou’s College of Engineering, was published in the journal Science Advances under the title A sensory and motor neuropathy caused by a genetic variant of NAMPT
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The Mechanism of MINA Syndrome
MINA syndrome primarily damages motor neurons, which are the nerve cells responsible for transmitting signals from the spinal cord and brain to the muscles. While the genetic mutation responsible for the syndrome is present in every cell of the body, the impact is most severe in motor neurons.
According to Shinghua Ding, nerve cells are particularly vulnerable to this condition because they possess long nerve fibers and require significant amounts of energy to send the signals that control movement. When the NAMPT protein fails to function correctly, cells cannot produce sufficient energy to remain healthy.
Over time, this energy deficiency causes the cells to weaken, and die. This cellular degradation leads to several physical symptoms, including:
- Muscle weakness
- Loss of coordination
- Foot deformities
These symptoms can worsen over time, and in severe cases, patients may eventually require the use of a wheelchair.
From Foundational Research to Clinical Discovery
The identification of MINA syndrome is the result of years of basic scientific research. In 2017, Ding published a study demonstrating that NAMPT is critical for the maintenance of healthy neurons. That research found that a lack of NAMPT in nerve cells resulted in paralysis and symptoms similar to amyotrophic lateral sclerosis (ALS).
These findings led a medical geneticist in Europe to contact Ding after encountering two patients who exhibited unexplained coordination issues and muscle weakness. By studying the cells of these patients and utilizing a mouse model, the international research team was able to identify the specific genetic mutation and define the new syndrome.
Broader Context of Neuromuscular Research at Mizzou
The discovery of MINA syndrome is part of a wider effort at the University of Missouri to address neuromuscular and neurodegenerative disorders. Other researchers at the institution are exploring different avenues to treat similar symptoms of muscle loss and neuron dysfunction.
For example, Smita Saxena, a professor in the School of Medicine, has researched a method to deliver a natural molecule called GM1 to the brain using tiny fat-based bubbles. This approach aims to overcome the blood-brain barrier to improve symptoms of ALS, a disease that also involves the breakdown of neurons and limits the ability to move muscles.
other Mizzou researchers have focused on sarcopenia, a condition involving a sharp decline in muscle size and strength that affects nearly half of adults over 80. In a study published on March 5, 2025, W. David Arnold and his team identified a small molecule drug targeting a specific serotonin receptor that could help motor neurons fire more effectively to improve muscle strength.
Pathways to Treatment
The identification of the genetic cause of MINA syndrome demonstrates how basic research can lead to discoveries with direct implications for patients with unexplained conditions. By understanding the specific role of the NAMPT protein and how its mutation leads to energy failure in motor neurons, researchers can better target potential treatments.
The University of Missouri continues to utilize the Roy Blunt NextGen Precision Health building, which combines research and clinical spaces, to accelerate the transition of these findings from the laboratory to human clinical trials.