New study reveals spinal muscular atrophy risks liver damage

Study shows that SMA mutation reduces the liver's fat metabolism ability.

People with Spinal Muscular Atrophy (SMA) are at higher risk of developing fatty liver disease, potentially leading to additional health challenges over time, according to a study from the Journal of Clinical Investigation.

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 damaged motor neurons can't send messages to the muscles, resulting in progressive muscle weakness.

The study found that the genetic mutation causing SMA reduces SMN protein levels in liver cells, impairing fat metabolism.

Therefore, editing the faulty gene in a patient's stem cells to increase SMN production reversed the liver dysfunction caused by the mutation, establishing a direct link between the genetic defect and liver issues in SMA.

The study involved clinicians and researchers from institutions in Singapore, the United States, and Scotland, such as A*STAR, NUS Medicine, Boston Children’s Hospital, Harvard Medical School, Harvard University, and the University of Aberdeen.

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