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A groundbreaking international study has revealed that individuals with Spinal Muscular Atrophy (SMA) are at a higher risk of developing fatty liver disease. The research, conducted by scientists from the US, Singapore, and Scotland, underscores the extensive impact of SMA, a neurodegenerative condition, on the body beyond the nervous system.
SMA, a rare genetic disorder, impedes the body’s ability to produce Survival Motor Neuron (SMN) protein, which is crucial for the proper functioning of motor neurons. These neurons are responsible for sending signals to muscles, and their degeneration leads to 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,” stated Crystal Yeo, a Clinician-Scientist from A-STAR’s Institute of Molecular and Cell Biology (IMCB) in Singapore.
Published in the prestigious Journal of Clinical Investigation, the study details how the genetic mutation responsible for SMA further diminishes SMN protein levels in liver cells. This deficiency hampers the liver’s ability to metabolize fats, leading to fatty liver disease. The condition, characterized by fat accumulation in the liver, can result in inflammation and damage, which are typically associated with heart conditions, diabetes, and obesity.
For SMA patients, the prospect of developing fatty liver disease adds a significant layer of concern. However, the research offers a beacon of hope. The study demonstrated that by editing the defective gene in patients’ stem cells to boost SMN production, the resulting liver dysfunction could be reversed. This breakthrough establishes a direct link between the genetic defect and liver problems in SMA, opening new avenues for potential treatments.
This revelation about the broader health implications of SMA highlights the need for comprehensive medical care for patients. As research continues to uncover the far-reaching effects of this genetic disorder, it becomes increasingly crucial to address the multifaceted challenges faced by those living with SMA.
