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Updated: Sep 28, 2025
Murine Oropharyngeal Aspiration Model of Ventilator-associated and Hospital-acquired Bacterial Pneumonia
Published on: June 28, 2018
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause
Ryo Sugitate1, Kazuhiro Muramatsu2, Tomomi Ogata3
1Department of Pediatrics, Japanese Red Cross Maebashi Hospital, Maebashi, Japan.
Introduction:
Methyl-CpG binding protein 2 gene (MECP2) is located on the X chromosome (Xq28) and is important for nervous and immune system functioning. Patients with MECP2 duplication syndrome (MDS) have recurrent respiratory infections (RRIs). Although RRIs often occur with MDS because some patients with MDS also have hypoimmunoglobulinemia and duplication of the interleukin-1-receptor-associated kinase-1 gene (IRAK1), which is also located on Xq28, the phenotype of IRAK1 duplication in patients with MDS remains unclear.
Methods:
The clinical course of three patients with MDS who underwent laryngotracheal separation (LTS) at two institutions was summarized.
Results:
Three patients with MDS were identified to have recurrent pneumonia characteristic of aspiration pneumonia, sometimes requiring artificial ventilation therapy; they had no other bacterial infections. After LTS, they rarely had pneumonia. In MDS, MECP2 expression increased two-fold naturally, while IRAK-1 expression showed no difference compared with a healthy subject.
Conclusions:
Since RRIs in MDS are thought to be caused by aspiration and not susceptibility to infection previously estimated to be major complication, the evaluation of aspiration is recommended for RRIs for better management of MDS.
Insights
Recurrent respiratory infections in Methyl-CpG binding protein 2 gene duplication syndrome (MDS) are primarily due to aspiration, not immune deficiency. Evaluating aspiration is key for managing these infections in MDS patients.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Methyl-CpG binding protein 2 gene (MECP2) on the X chromosome is crucial for nervous and immune functions.
- MECP2 duplication syndrome (MDS) is associated with recurrent respiratory infections (RRIs).
- The role of interleukin-1-receptor-associated kinase-1 (IRAK1) duplication in MDS phenotype is unclear.
Observation:
- Three patients with MDS experienced recurrent pneumonia, often aspiration-related, requiring ventilation.
- These patients did not present with other bacterial infections.
- Laryngotracheal separation (LTS) significantly reduced pneumonia incidence in these patients.
Findings:
- MECP2 expression was naturally elevated two-fold in MDS patients.
- IRAK-1 expression showed no significant difference compared to healthy individuals.
- RRIs in MDS are linked to aspiration, not a general susceptibility to infection.
Implications:
- Aspiration evaluation is recommended for managing RRIs in MDS.
- This finding shifts the understanding of RRIs in MDS from immune deficiency to aspiration.
- Better management strategies for MDS can be developed by addressing aspiration.
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