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SPNS1 mutations reveal new lysosomal lipid recycling pathway

Scientists have linked rare mutations in SPNS1 to a previously unknown lipid recycling pathway in lysosomes, revealing how faulty fat processing can trigger muscle and liver disease.

Researchers have traced a rare multi-organ disorder to mutations in the gene SPNS1, which block lysosomal lipid recycling. The discovery identifies a new pathway in fat metabolism with implications for lysosomal storage diseases and potential therapeutic development.

As Deputy Director of the Cardiovascular & Metabolic Disorders Programme at Duke-NUS Medical School, Professor David Silver describes how his team identified SPNS1’s role in lysosomal lipid recycling, the consequences of pathway failure and the wider implications for future therapies. Read more>>

Source: Drug Target Review