New Study Highlights Fatty Liver Disease Risk in Spinal Muscular Atrophy Patients - Video

In a study published in the prestigious Journal of Clinical Investigation, researchers have discovered that individuals with Spinal Muscular Atrophy (SMA), a neurodegenerative condition, are at a higher risk of developing fatty liver disease. This discovery suggested that SMA patients may encounter additional health challenges over time, raising significant concerns about their long-term care and overall health outcomes.

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that hinders the production of the essential Survival Motor Neuron protein, leading to progressive muscle weakness due to damaged motor neurons. Despite treatment advances improving survival rates, new research indicates that SMA’s impact extends beyond the nervous system, potentially affecting other organs like the liver.

Fatty liver disease is a condition characterized by an excessive buildup of fat in liver cells. It can lead to inflammation and liver damage and is often associated with conditions like heart disease, diabetes, and obesity. The disease can range from mild to severe, potentially resulting in liver scarring or dysfunction.

The multi-center study, involving clinicians and researchers from leading institutions, revealed that the genetic mutation responsible for SMA reduces SMN protein levels in liver cells, impairing their ability to break down and utilize fat effectively. This explains the presence of fatty liver disease in SMA patients, which was detected in children as young as three years old via liver ultrasound scans. Importantly, editing the faulty gene in patients' stem cells to boost SMN production reversed the liver dysfunction caused by the mutation, establishing a direct link between the genetic defect and liver issues in SMA.

In conclusion, the findings highlighted the need to view Spinal Muscular Atrophy (SMA) as a multi-organ disorder and underscored the importance of comprehensive patient care. As treatments extend the lifespan of SMA patients, understanding the genetic mutation’s long-term effects on various organs is crucial for identifying new issues, developing effective treatments, and improving outcomes.

Reference: Leow, D. M.-K., et al. (2024). Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy. The Journal of Clinical Investigation.

doi.org/10.1172/JCI173702.