Viral infection and brain inflammation with seizures in PARK7 deficiency

Respiratory syncytial virus (RSV) is a major health problem worldwide, particularly in infants and young children. The infection can progress to life-threatening lower respiratory disease and, in rare cases, involves the central nervous system. We explore the pathophysiology in a child with high fever, seizures, and encephalopathy with brain inflammation during severe RSV infection. Whole-genome sequencing revealed homozygosity for a rare loss-of-function variant in the early-onset Parkinson-related gene <i>PARK7</i>/<i>DJ-1</i>. PARK7 plays a role in immune regulation, stress responses, and cell death. The patient's Peripheral blood mononuclear cells and fibroblasts exhibited increased inflammatory cytokine responses, impaired RSV-induced apoptosis, and dampened autophagy. Studies in PARK7-deficient neuronal cells recapitulated the patient's cellular phenotype, which was reversed upon PARK7 reconstitution. To our knowledge, this is the first association between PARK7 deficiency and RSV-induced brain inflammation, encephalopathy, and seizures. Collectively, our results demonstrate a role for PARK7 in regulation of inflammation and cellular homeostasis and suggest that PARK7 deficiency may aggravate infectious disease and cause immunopathology.

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Publication Details

Journal
Journal of Human Immunity
Published
2025-12-04
DOI
https://doi.org/10.70962/jhi.20250044
Primary Topic
Parkinson's Disease Mechanisms and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Viral infection and brain inflammation with seizures in PARK7 deficiency

Johanna Heinz, Bettina Bundgaard, Daniëla Maria Hinke, Franziska Winzig et al.
Journal of Human Immunity
Parkinson's Disease Mechanisms and Treatments
article

Viral infection and brain inflammation with seizures in PARK7 deficiency

Johanna Heinz, Bettina Bundgaard, Daniëla Maria Hinke, Franziska Winzig, Renée Marije van der Sluis, Mette Møller Handrup, Kenneth Thomsen, Mette Bendixen Thorup, S.H. Andersen, Thomas Zillinger, Jakob Munkholt Christensen, Kerstin De Keukeleere, Annika Sünderhauf, Jakob Ek, Jonas Lønskov, Trine Mogensen, Caroline Bækmann Jeppesen, Elsebet Østergaard, Sofie Eg Jørgensen
article en

Abstract

Respiratory syncytial virus (RSV) is a major health problem worldwide, particularly in infants and young children. The infection can progress to life-threatening lower respiratory disease and, in rare cases, involves the central nervous system. We explore the pathophysiology in a child with high fever, seizures, and encephalopathy with brain inflammation during severe RSV infection. Whole-genome sequencing revealed homozygosity for a rare loss-of-function variant in the early-onset Parkinson-related gene <i>PARK7</i>/<i>DJ-1</i>. PARK7 plays a role in immune regulation, stress responses, and cell death. The patient's Peripheral blood mononuclear cells and fibroblasts exhibited increased inflammatory cytokine responses, impaired RSV-induced apoptosis, and dampened autophagy. Studies in PARK7-deficient neuronal cells recapitulated the patient's cellular phenotype, which was reversed upon PARK7 reconstitution. To our knowledge, this is the first association between PARK7 deficiency and RSV-induced brain inflammation, encephalopathy, and seizures. Collectively, our results demonstrate a role for PARK7 in regulation of inflammation and cellular homeostasis and suggest that PARK7 deficiency may aggravate infectious disease and cause immunopathology.

Journal of Human ImmunityVol. 2(2)
University of Copenhagen (DK), Aarhus University (DK), University Hospital Bonn (DE), Aarhus University Hospital (DK), Rigshospitalet (DK), IT University of Copenhagen (DK)
Aarhus Universitet, National Research Foundation, Danmarks Grundforskningsfond, Lundbeckfonden, Novo Nordisk, Novo Nordisk Fonden, H. Lundbeck A/S, HORIZON EUROPE Framework Programme
Good health and well-being
Openalex Percentile: Top 29%
Parkinson's Disease Mechanisms and Treatments
DOIOpen Access PDFOpenAlex
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