Publications

FSASD is a rare genetic disease where a sugar called sialic acid builds up in cells, especially in the brain. FSASD is caused by SLC17A5 mutations that impair the sialin protein, leading to the sialic acid buildup in cells, and resulting in cellular damage.

Studies suggest that while SLC17A5 mutations cause FSASD and were suspected to influence Parkinson’s risk, mouse research found no major brain lipid changes, indicating the variant likely does not contribute to Parkinson’s disease.

Parkinson’s disease has been linked to problems in lysosomes (the cell’s recycling centers). Researchers examined whether SLC17A5 gene changes, which cause FSASD, might increase Parkinson’s risk, but large European studies found no significant connection.

Measuring free sialic acid in white blood cells can reliably detect FSASD, offering a simpler and less invasive way to diagnose and monitor the disease.

FSASD patients show abnormal levels of certain brain lipids (gangliosides) in blood and spinal fluid, which could help track the disease and guide future studies.

Scientists found that in FSASD, different brain cell types, especially astrocytes, show increased free sialic acid, altered enzymes, and other cellular changes, shedding light on how the disease damages the brain.

Scientists created stem cell models from both mild and intermediate FSASD patients to better study the disease and develop future treatments.

Scientists mapped the 3D shape of sialin, the protein that moves sialic acid out of cells’ recycling centers. They found the critical spots where changes (mutations) can break the protein and cause disease.

As part of the (US) National Organization for Rare Disorders database, scientists provide a disease overview of Free sialic acid storage disorders (which include Salla disease).

Using base editing, scientists successfully corrected the main FSASD-causing SLC17A5 mutation in patient and mouse cells, reducing harmful sugar buildup more effectively and safely than traditional CRISPR methods.

FSASD (also called free sialic acid storage disorders) are an extremely rare genetic condition where a sugar molecule called sialic acid builds up inside cells, especially affecting the brain and nervous system.

FSASD is a rare genetic disease, causing sialic acid buildup that leads to developmental and movement problems. While no treatments exist yet, research is actively underway with support from experts and the STAR Foundation.

Scientists identified compounds that bind and help correct malfunctioning sialin, including the R39C mutant, pointing to potential therapies for FSASD.

The paper reviews genetic diseases caused by faulty lysosomal transporters, focusing on SLC17A5/sialin disorders like FSASD, and explains how disrupted lysosomal export leads to cellular damage, comparing them with similar conditions.