A recent international study reveals that individuals with Spinal Muscular Atrophy (SMA), a neurodegenerative disorder, face a heightened risk of developing fatty liver disease, underscoring potential long-term health issues beyond SMA’s impact on the nervous system. SMA is a genetic condition that results in low levels of Survival Motor Neuron (SMN) protein, critical for muscle-controlling nerves. Without SMN, motor neurons fail to communicate with muscles, leading to progressive muscle weakness. While advances in SMA treatment have improved survival, especially in infants with severe SMA, this research indicates that the disorder’s effects extend to other organs, including the liver.
The study, published in The Journal of Clinical Investigation, was a collaboration among researchers from Singapore, the U.S., and Scotland, involving institutions such as the Agency for Science, Technology and Research (A*STAR) in Singapore, Boston Children’s Hospital, Harvard Medical School, and the University of Aberdeen. It found that SMA’s genetic mutation not only reduces SMN in muscle cells but also in liver cells, impairing their ability to metabolize fat. This explains the presence of fatty liver disease in SMA patients, detectable as early as three years of age through ultrasound scans. In a breakthrough discovery, the study demonstrated that gene editing to increase SMN production reversed liver dysfunction, directly linking SMA’s genetic mutation to fatty liver disease.
This finding suggests that SMA should be treated as a multi-organ disorder, requiring expanded care and monitoring for additional health issues that could develop as SMA patients age. Clinicians involved, such as Dr. Crystal Yeo of A*STAR and Prof. Basil Darras of Boston Children’s Hospital, emphasize the need for comprehensive care approaches to improve long-term outcomes for those living with SMA.
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