Scientists have identified a genetic disease that affects motor neurons and muscles

An international research team led by Shinhua Ding, a professor at the University of Missouri College of Engineering, has discovered a previously unknown genetic disease that affects muscle movement and control. This is reported by the Medical Xpress magazine.

The disease, called NAMPT axonopathy Mutation syndrome (MINA), causes damage to motor neurons, nerve cells that transmit signals from the brain and spinal cord to muscles. This is the result of a rare genetic mutation in an important protein called NAMPT, which helps the body's cells produce and use energy. When this protein does not work properly, cells cannot produce enough energy to maintain health.

Energy deficiency weakens cells, which leads to their death, and symptoms such as muscle weakness, loss of coordination, and leg deformity occur. It can get worse over time. In severe cases, patients may need a wheelchair.

"Although this mutation occurs in every cell in the body, it appears to primarily affect motor neurons. We believe that nerve cells are particularly vulnerable to this disease because they have long nerve fibers and require a lot of energy to transmit signals that control movement," said Ding.

This discovery is based on years of fundamental research by Ding and his colleagues. In 2017, the professor published a landmark study showing the critical importance of NAMPT for maintaining neuron health. He found that the absence of NAMPT in nerve cells leads to paralysis and symptoms similar to motor neuron disease.

This discovery attracted the attention of a medical geneticist from Europe, who turned to Ding after seeing two patients with unexplained muscle weakness and coordination problems. The doctor asked his team to conduct a study.

As a result, the scientists studied the patients' cells and a mouse model. It turned out that both patients had the same mutation in NAMPT, which confirmed its involvement in the disease. Interestingly, the mice carrying this mutation showed no visible symptoms, but their nerve cells showed the same internal problems as in human cells.

"This shows why studying patients' cells is so important. Animal models can point us in the right direction, but human cells show what really happens to humans," Ding added.

This study is a significant step forward in understanding rare genetic diseases and how disruptions in cellular energy metabolism can affect nerve health. It also demonstrates how basic scientific analyses can lead to discoveries that have a direct impact on patients with rare, unexplained conditions. Although there is no cure for MINA syndrome yet, researchers are already testing ways to boost energy levels in affected nerve cells.

Earlier, on October 13, Medical Xpress pointed out the effectiveness of physical exercise in osteoarthritis. It was noted that each step allows for the circulation of nutrients and natural lubricants, supporting joint health.

All important news is on the Izvestia channel in the MAX messenger.