A recent international study conducted by researchers from the US, Singapore, and Scotland has revealed a concerning link between Spinal Muscular Atrophy (SMA) and an increased risk of developing fatty liver disease. SMA is a rare genetic condition that affects the production of Survival Motor Neuron (SMN) protein crucial for nerve function, leading to muscle weakness over time.

The study, published in the Journal of Clinical Investigation, highlighted that the genetic mutation causing SMA results in reduced SMN protein levels in liver cells, leading to impaired liver function in breaking down and utilizing fats effectively. This condition can result in fatty liver disease, characterized by fat accumulation in the liver, inflammation, and damage.

Researchers emphasized that SMA patients face additional health risks beyond the nervous system, with potential impacts on other organs like the liver. The study demonstrated that editing the faulty gene in patients’ stem cells to enhance SMN production could reverse liver dysfunction caused by the mutation, indicating a direct correlation between the genetic defect and liver issues in SMA.

This new insight underscores the importance of monitoring and addressing liver health in SMA patients, as fatty liver disease poses significant concerns for individuals with SMA, who are already dealing with the challenges of the neurodegenerative condition. By understanding these potential health implications, healthcare providers can better support SMA patients in managing their overall well-being.