Study shows spinal muscular atrophy may raise risk of liver damage

New Delhi: People living with the neurodegenerative condition Spinal Muscular Atrophy (SMA) could be at a higher risk of developing fatty liver disease, according to an international study by researchers from the US, Singapore, and Scotland.

This finding suggests that SMA patients may face additional health problems over time and that its impact extends beyond the nervous system, potentially affecting other organs such as the liver.

SMA is a rare genetic condition that prevents the body from producing Survival Motor Neuron (SMN) -- a protein essential for nerves that control movement. The damage in motor neurons makes them unable to send messages to the muscles, resulting in progressive muscle weakness.

"Our findings show that SMA patients may be at higher risk of additional health problems over time, as the SMA gene mutation also affects other organs in the body, including the liver," said Crystal Yeo, Clinician-Scientist from A-STAR's Institute of Molecular and Cell Biology (IMCB), Singapore.

The study, published in the prestigious Journal of Clinical Investigation, revealed that a genetic mutation which causes SMA, further reduces SMN protein levels in liver cells. This leads to liver impairment and their ability to break down and use fat effectively.

In fatty liver disease, fat builds up in the liver leading to inflammation and damage. The disease, usually linked to heart conditions, diabetes, and obesity, is particularly concerning for SMA patients, the team said.

Importantly, the study showed that editing the faulty gene in patients' stem cells to increase SMN production reversed the liver dysfunction caused by the mutation. This establishes a direct link between the genetic defect and liver problems in SMA.