Scientists have just discovered a hidden genetic flaw that is slowly stealing power

This condition, known as Mutation in NAMPT Axonopathy (MINA) syndrome, damages motor neurons — nerve cells responsible for transmitting signals from the brain and spinal cord to the body’s muscles. It stems from a rare mutation in the NAMPT protein, which plays a crucial role in helping cells produce and use energy. When this protein malfunctions, cells cannot generate the energy they need to survive and function properly.

How energy failure affects the nervous system

As the energy deficiency worsens, cells gradually weaken and die, leading to symptoms such as muscle weakness, poor coordination, and deformities of the feet. These symptoms usually develop over time, and in more severe cases, individuals may eventually require a wheelchair.

“Although this mutation is present in every cell in the body, it appears to primarily affect motor neurons,” Ding explained. “We think neurons are particularly vulnerable to this condition because they have long nerve fibers and need a lot of energy to send signals that control movement.”

Building on years of foundational research

The new discovery expands on previous research conducted by Ding and his team. In 2017, they published a pivotal study showing that NAMPT is essential for maintaining healthy neurons. Their work revealed that loss of NAMPT function in neurons can lead to paralysis and symptoms resembling amyotrophic lateral sclerosis (ALS), a well-known motor neuron disease.

This earlier study caught the attention of a medical geneticist in Europe who encountered two patients with unexplained muscle weakness and coordination problems. In search of answers, the doctor contacted Ding’s laboratory to investigate the possible connection.

Confirm the genetic cause

By analyzing cells from the patients and creating a matching mouse model, Ding and his collaborators confirmed that both patients shared the same NAMPT mutation responsible for their symptoms. Interestingly, although the mice carrying the mutation did not show external physical symptoms, their neurons showed the same internal cellular defects seen in the patients’ cells.

“This shows the importance of studying a patient’s cells,” Ding said. “Animal models can point us in the right direction, but human cells reveal what really happens in humans.”

Towards new treatments and deeper understanding

There is currently no cure for Mena syndrome, but researchers are already exploring ways to boost energy production in affected nerve cells.

This discovery represents a major advance in understanding rare genetic conditions and demonstrates how problems with cellular energy production can lead to nerve damage. It also highlights how years of basic laboratory research can ultimately lead to discoveries that provide real hope for patients with rare and unexplained diseases.

The results were published in Advancement of science Under the title “Sensory and motor polyneuropathy caused by the NAMPT gene variant.”