This Hidden Genetic Disorder Could Be the Secret Behind Nerve Weakness and Atrophy
A newly identified genetic condition dubbed “MINA syndrome” has emerged as a stealthy trigger of nerve and muscle decline. Researchers pinpointed a mutation in the NAMPT gene—essential for generating NAD⁺, a key energy molecule in cells. Without sufficient NAMPT activity, motor neurons struggle to power the long nerve fibres that control muscle movement. This energy shortfall gradually leads to muscle weakness, coordination loss and, in advanced cases, mobility impairment. Interestingly, although the mutation is present throughout the body, its effects are most obvious in the high-demand motor neurons. While no cure exists yet, this breakthrough opens fresh avenues for therapies aimed at restoring cellular energy and may shed light on other neurological disorders involving neuron degeneration.
The Key points
- The disorder is called MINA syndrome—short for Mutation in NAMPT Axonopathy.
- It stems from a mutation in the NAMPT gene, impairing NAD⁺-based cellular energy production.
- Motor (nerve → muscle) neurons are especially vulnerable due to their high energy demand.
- Initial symptoms include progressive muscle weakness and coordination issues.
- Foot and gait problems may appear early, with possible deformities if untreated.
- The mutation is present in all cells, but clinical effects concentrate in motor neurons.
- Research builds on earlier work showing NAMPT dysfunction can mimic ALS-like damage.
- Current treatment options are lacking, yet boosting neuron energy is a promising path.
- Understanding this rare disorder may inform therapies for broader neurodegenerative diseases.
- The discovery highlights the importance of basic molecular research in uncovering hidden health threats.
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