Study shows spinal muscular atrophy may raise risk of liver damage

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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.

Earlier, we also published:

Maintain hygiene, urges doctor amid rising cholera cases

Hygiene is crucial to curb the cholera outbreak, currently seen in Kerala and Gujarat, said a medical expert on Sunday.

Cholera is a waterborne bacterial infection due to the bacterium Vibrio cholerae that is transmitted from one infected person to another due to contaminated water or food, especially seafood.

"Once ingested, the bacteria multiply within the small intestine and produce the cholera toxins that are responsible for the symptoms of severe watery diarrhoea also called 'rice water loose stools' and severe dehydration," Dr Sujatha Thyagarajan, senior consultant - Paediatrics & Paediatric Intensive care, Aster RV Hospital in Bengaluru, said.

Kerala's capital Thiruvananthapuram has seen a severe outbreak of cholera with reportedly one suspected death and 12 confirmed cases and 17 suspected cases are undergoing treatment. Several cases of cholera have also been reported from Gujarat and an area in a 2-kilometer radius has reportedly been declared as a cholera-affected area, under the Epidemic Diseases Act.

"The rapid loss of fluids and electrolytes, if not replaced quickly, can cause death. The spread can be rapid especially when there is limited clean water supply and unsanitary conditions reaching epidemic proportions very quickly," Dr Thyagarajan said.

She noted that cholera prevention is of utmost importance and requires a multi-pronged approach, adding that children and the elderly are highly vulnerable to severe dehydration, complications, and even death, and hence warrant prompt recognition and treatment.

"The focus must be on improving personal hygiene and ensuring access to clean potable water. It is important to ensure there are adequate sanitation practices to avoid contamination of sewage and safe water is provided at all times," she said.

She also recommended "proper cooking and safe handling of seafood".

"In general, adequate personal hygiene must be maintained at all times -- hand washing with soap after the toilet and before eating food."

Further, Dr Thyagarajan said once an outbreak is identified, the rapid spread must be contained aggressively through regular surveillance and prevention methods. "The main treatment of Cholera is timely rehydration through ORS (oral rehydration solution) or intravenous rehydration to replace the rapid fluid and electrolyte loss," she said, adding that antibiotics can help in severe cases.

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