Spinal muscular atrophy (SMA) can trigger fatty liver disease. Explained.
- The genetic mutation that causes spinal muscular atrophy (SMA) reduces protein levels in liver cells, impairing their ability to break down and use fats efficiently.
- This discovery explains why people with spinal muscular atrophy can also develop fatty liver disease.
- “As patients with spinal muscular atrophy live longer, knowing that SMA affects other organs may change the way doctors monitor and treat the condition,” said Basil Darras, MD, PhD, of Boston Children’s Hospital.
A new study An international study has found that people with spinal muscular atrophy (SMA) are at higher risk of developing fatty liver disease (or “fatty liver disease”).
What is spinal muscular atrophy (SMA) and fatty liver disease?
SMA is a rare genetic disease that prevents the body from producing a protein essential for nerves that control movement, leading to increasingly severe muscle weakness as the patient ages.
“In recent years, SMN1-related proximal spinal muscular atrophy (SMA) has undergone a real therapeutic revolution with the arrival of three treatments: the Spinraza®the Zolgensma® and the Evrysdi® “, noted AFM-Telethon on his site.
“There are four forms of proximal spinal muscular atrophy, depending on the age of onset and the severity of symptoms. It is generally accepted that the earlier the symptoms appear, the more severe the progression of the disease,” completes the association.
Fatty liver disease is a condition in which fat builds up in the liver, causing inflammation, damage and in the most extreme cases cirrhosis.
Spinal muscular atrophy (SMA) and fatty liver disease: what is their link?
The study published in the prestigious Journal of Clinical Investigation involved leading clinicians and researchers living in Singapore, the United States and Scotland.
The trial found that the genetic mutation that causes spinal muscular atrophy reduces protein levels in liver cells, impairing their ability to break down and use fat efficiently. This finding explains why fatty liver disease can develop in very young children with spinal muscular atrophy, whereas it normally takes decades to develop through unhealthy diet and lack of physical activity.
“Our results show that patients with spinal muscular atrophy may be at risk of other health problems over time because the SMA gene mutation also affects other organs in the body, including the liver.”said Dr Crystal Yeo (National Neuroscience Institute).
“As patients with spinal muscular atrophy live longer, knowing that SMA affects other organs may change the way doctors monitor and treat the condition,” Professor Basil Darras (Boston Children’s Hospital) also said.
