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.
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