Hundred-year Oolong: This rare neurodegenerative disease turns out to be an immune disease

Researchers at UT Southwestern University have discovered an immune protein related to a rare neurodegenerative disease-Niemann-Pick C disease

"Niemann-Pick disease has never been considered an immune disorder," said Yan Nan, Ph.

Niemann-Pick type C disease, one in every 150,000 people in the world suffers from this disease, and has long been considered a disease of cholesterol metabolism and distribution

Dr.

Yan Nan’s laboratory does not study cholesterol metabolism.

STING is a key part of the body's defense against viruses.

STING reaches different organelles to perform different tasks, and finally enters the lysosome, which is the garbage dump of the cell

To determine which proteins interact with STING as it travels through the cell, Yan and his colleagues used a technique called proximity labeling, which allows other proteins around the protein of interest Glow

Because STING has never been implicated in Type C Niemann-Pick disease, Yan and his team investigated whether it might work

Further studies have shown that the protein produced by Npc1 has a binding site for STING, allowing it to enter the lysosome for processing

In addition, Yan also found that in Niemann-Pick disease, the STING signal is activated independently of cGAS

Professor Yan said that his laboratory and other laboratories are studying the use of experimental drugs that inhibit STING to treat various autoimmune diseases

"If we can prove that these compounds are effective in our animal models," Yan said, "we may be able to provide an effective treatment for patients with Niemann-Pick disease

Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C

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