Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34
Yan Shen1, Marissa Z McMackin1, Yuxi Shan1
1Department of Molecular Biosciences, University of California Davis, Davis, California, 95616, United States of America.
Abstract:
An inherited deficiency in the frataxin protein causes neurodegeneration of the dorsal root ganglia and Friedreich's ataxia (FA). Frataxin deficiency leads to oxidative stress and inflammatory changes in cell and animal models; however, the cause of the inflammatory changes, and especially what causes brain microglial activation is unclear. Here we investigated: 1) the mechanism by which frataxin deficiency activates microglia, 2) whether a brain-localized inflammatory stimulus provokes a greater microglial response in FA animal models, and 3) whether an anti-inflammatory treatment improves their condition. Intracerebroventricular administration of LPS induced higher amounts of microglial activation in the FA mouse model vs controls. We also observed an increase in oxidative damage in the form of 8-oxoguanine (8-oxo-G) and the DNA repair proteins MUTYH and PARP-1 in cerebellar microglia of FA mutant mice. We hypothesized that frataxin deficiency increases DNA damage and DNA repair genes specifically in microglia, activating them. siRNA-mediated frataxin knockdown in microglial BV2 cells clearly elevated DNA damage and the expression of DNA repair genes MUTYH and PARP-1. Frataxin knockdown also induced a higher level of PARP-1 in MEF cells, and this was suppressed in MUTYH-/- knockout cells. Administration of the PARP-1 inhibitor PJ34 attenuated the microglial activation induced by intracerebroventricular injection of LPS. The combined administration of LPS and angiotensin II provoke an even stronger activation of microglia and neurobehavioral impairment. PJ34 treatment attenuated the neurobehavioral impairments in FA mice. These results suggest that the DNA repair proteins MUTYH and PARP-1 may form a pathway regulating microglial activation initiated by DNA damage, and inhibition of microglial PARP-1 induction could be an important therapeutic target in Friedreich's ataxia.
Insights
Friedreich
Area of Science:
- Neuroscience
- Genetics
- Immunology
Background:
- Friedreich's ataxia (FA) results from frataxin deficiency, causing neurodegeneration.
- Frataxin deficiency is linked to oxidative stress and inflammation, but microglial activation mechanisms are unclear.
Purpose of the Study:
- Investigate frataxin deficiency's role in microglial activation.
- Determine if inflammatory stimuli exacerbate microglial response in FA models.
- Assess anti-inflammatory treatment efficacy in FA.
Main Methods:
- Utilized Friedreich's ataxia mouse models and microglial cell lines.
- Administered lipopolysaccharide (LPS) and angiotensin II to induce inflammation.
- Assessed DNA damage, oxidative stress markers, and DNA repair gene expression (MUTYH, PARP-1).
- Tested the efficacy of a PARP-1 inhibitor (PJ34).
Main Results:
- FA mice showed heightened microglial activation and oxidative damage (8-oxo-G) in response to LPS.
- Frataxin knockdown in microglia increased DNA damage and MUTYH/PARP-1 expression.
- PARP-1 inhibition (PJ34) reduced microglial activation and neurobehavioral deficits in FA mice.
- MUTYH deficiency partially suppressed frataxin knockdown-induced PARP-1 elevation.
Conclusions:
- Frataxin deficiency-induced DNA damage activates microglia via MUTYH and PARP-1.
- Inhibiting microglial PARP-1 is a potential therapeutic strategy for Friedreich's ataxia.
- This pathway offers a novel target for treating FA-associated neuroinflammation.

