Brett D Dufour1, Sarwat Amina2, Veronica Martinez-Cerdeno3. 1. Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA, USA; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, USA. 2. Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA. 3. Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA, USA; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA. Electronic address: vmartinezcerdeno@ucdavis.edu.
Abstract
INTRODUCTION: Fragile X Tremor and Ataxia Syndrome is a progressive neurodegenerative disorder that develops in some FMR1 premutation carriers. The objective of this study is to characterize how cytokine levels are altered in the FXTAS brain. METHODS: Fresh frozen cerebellar tissue from FXTAS cases and controls was homogenized and analyzed for 12 different cytokines using a commercially available ELISA panel. RESULTS: Relative to controls, FXTAS cases showed large and significant increases in the cytokines IL-12 and TNFα. There were large but non-significant increases in the levels of IL-2, IL-8, and IL-10 in FXTAS cases. The cytokines IL-1A, IL-1B, IL-4 IL-6, IL-17A, IFNγ, and GM-CSF were not different between FXTAS and control subjects. CONCLUSIONS: For the first time, we demonstrate an increase in the pro-inflammatory cytokines TNFα and IL-12 in the FXTAS brain, both of which are implicated in the pathogenesis of Multiple Sclerosis, another neurodegenerative disorder that predominantly consists of white matter disease.
INTRODUCTION: Fragile X Tremor and Ataxia Syndrome is a progressive neurodegenerative disorder that develops in some FMR1 premutation carriers. The objective of this study is to characterize how cytokine levels are altered in the FXTAS brain. METHODS: Fresh frozen cerebellar tissue from FXTAS cases and controls was homogenized and analyzed for 12 different cytokines using a commercially available ELISA panel. RESULTS: Relative to controls, FXTAS cases showed large and significant increases in the cytokines IL-12 and TNFα. There were large but non-significant increases in the levels of IL-2, IL-8, and IL-10 in FXTAS cases. The cytokines IL-1A, IL-1B, IL-4 IL-6, IL-17A, IFNγ, and GM-CSF were not different between FXTAS and control subjects. CONCLUSIONS: For the first time, we demonstrate an increase in the pro-inflammatory cytokines TNFα and IL-12 in the FXTAS brain, both of which are implicated in the pathogenesis of Multiple Sclerosis, another neurodegenerative disorder that predominantly consists of white matter disease.
Authors: C M Greco; R F Berman; R M Martin; F Tassone; P H Schwartz; A Chang; B D Trapp; C Iwahashi; J Brunberg; J Grigsby; D Hessl; E J Becker; J Papazian; M A Leehey; R J Hagerman; P J Hagerman Journal: Brain Date: 2005-12-05 Impact factor: 13.501
Authors: Diana A Abbasi; Thu T A Nguyen; Deborah A Hall; Erin Robertson-Dick; Elizabeth Berry-Kravis; Stephanie M Cologna Journal: Cerebellum Date: 2021-05-27 Impact factor: 3.847