Related Experiment Video
Updated: Dec 23, 2025
Author Spotlight: Unveiling the Pathway Linking Obesity to Autoimmune Inflammation in Multiple Sclerosis
Published on: February 23, 2024
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift
Antonio Gatto1, Paolo Mariotti2, Domenico Umberto De Rose3
1Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Rome, Italy. antonio.gatto@policlinicogemelli.it.
Abstract:
Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical radiological syndrome with good prognosis that affects mainly children or young adults. We describe two cases of MERS, associated with echovirus 6 and influenza A infection, in two twin sisters, at the age of 4 years. Genetic analysis was performed; next exome sequencing was performed on twins to disclose the eventual causative gene. Two different frameshift mutations in the CD36 gene [NM_000072] were found in both twins and confirmed by Sanger sequencing. To best of our knowledge, we report an association between CD36 mutation and MERS. We think that this relation between CD36 and inflammation has had a crucial role in the same callosal alteration during viral disease in the twin sister with the same gene mutation.
Insights
Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare condition. This study identified CD36 gene mutations in twin sisters with MERS, suggesting a genetic link to this neurological syndrome.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical-radiological syndrome characterized by a good prognosis, primarily affecting children and young adults.
- MERS is often associated with viral infections, but the underlying genetic predisposition is not well understood.
Purpose of the Study:
- To investigate the potential genetic factors contributing to MERS in pediatric patients.
- To identify specific gene mutations associated with the development of MERS in affected individuals.
Main Methods:
- Case study of twin sisters diagnosed with MERS.
- Next-generation exome sequencing to identify genetic variations.
- Sanger sequencing for confirmation of identified mutations.
Main Results:
- Two different frameshift mutations in the CD36 gene (NM_000072) were identified in both twin sisters.
- These mutations were confirmed through Sanger sequencing.
- The study proposes an association between CD36 mutations and MERS, potentially influencing inflammation and callosal alterations during viral infections.
Conclusions:
- This study reports a novel association between CD36 gene mutations and Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).
- The findings suggest that CD36 mutations may play a role in the pathogenesis of MERS, particularly in the context of viral infections and associated inflammation.
- Further research is warranted to elucidate the precise mechanisms linking CD36 to MERS and its neurological manifestations.
More Related Videos
06:19Induction and Diverse Assessment Indicators of Experimental Autoimmune Encephalomyelitis
Published on: September 9, 2022
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017