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Cyclic GMP-AMP synthase promotes the inflammatory and autophagy responses in Huntington disease

Manish Sharma, Sumitha Rajendrarao, Neelam Shahani, Uri Nimrod Ramírez-Jarquín, Srinivasa Subramaniam

2020Proceedings of the National Academy of Sciences160 citationsDOIOpen Access PDF

Abstract

Significance Huntington disease (HD) is a genetic disorder caused by glutamine-expansion in the huntingtin (mHTT) protein, which affects motor, psychiatric, and cognitive function, but the mechanisms remain unclear. mHTT is known to induce DNA damage and affect autophagy, both associated with inflammatory responses, but what mediates all these were unknown. Here we report that cGAS, a DNA damage sensor, is highly upregulated in the striatum of a mouse model and HD human patient’s tissue. We found ribosomes, which make proteins, are robustly accumulated on the cGAS mRNA in HD cells. cGAS depletion decreases—and cGAS expression increases—both inflammatory and autophagy responses in HD striatal cells. Thus, cGAS is a therapeutic target for HD. Blocking cGAS will prevent/slow down HD symptoms.

Topics & Concepts

AutophagyATP synthaseHuntington's diseaseCyclic gmpDiseaseChemistryBiologyCell biologyMedicineEnzymeBiochemistryApoptosisInternal medicineAutophagy in Disease and TherapyEndoplasmic Reticulum Stress and DiseaseToxoplasma gondii Research Studies
Cyclic GMP-AMP synthase promotes the inflammatory and autophagy responses in Huntington disease | Litcius