"Nature": Scientists accidentally discovered that a new treatment strategy for fatal "metabolic diseases" is provided

More than a hundred years ago, people discovered a fatal and rare genetic disease called Niemann-Pick disease type C (Niemann-Pick disease type C)

Recently, the top academic journal "Nature" published a research paper online in which scientists found an immune protein related to the disease through the C-type Niemann-Pick disease mouse model

Niemann-Pick disease type C has long been thought to be related to cholesterol metabolism

However, cholesterol metabolism is not the research project of Professor Yan Nan

Professor Chen Zhijian, a well-known Chinese scientist at the Southwest Medical Center, once discovered an enzyme called cyclic guanylate-adenylate synthetase (cGAS), which catalyzes the synthesis of signals after sensing double-stranded DNA in the cytoplasm The molecule then activates the STING signaling pathway, turns on interferon-activated genes, and fights invading pathogens

When STING completes its tasks in the cell, it will eventually enter the lysosome and become garbage to be degraded

Professor Yan and his colleagues wanted to confirm which proteins STING interacts with when performing tasks in different organelles

Following this accidental discovery, the research team began to examine the relationship between STING protein and type C Niemann-Pick disease

▲Npc1 knockout mice have severe neurological defects.

Further studies have shown that Npc1 protein binds to STING, allowing it to enter the lysosome for degradation

Interestingly, the scientists also found in this study that in type C Niemann-Pick disease, the activation of the STING signal does not depend on the classic cGAS

Note: The original text has been deleted

Reference

[1] Chu, TT.

[2] Researchers find immune component to rare neurodegenerative disease.