Abstract：
:Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures. We also found that Mecp2-null mice, which also have breathing problems, often exhibit inflammatory lung injury. These injuries occurred in specific sites in the lung lobes. In addition, polarizable foreign materials were identified in the injured lungs of Mecp2-null mice. These results indicated that aspiration might be a cause of inflammatory lung injury in Mecp2-null mice. On the other hand, MeCP2 deficiency affected the expression of several neuromodulator genes in the lower brainstem. Among them, neuropeptide substance P (SP) immunostaining was reduced in Mecp2-null brainstem. These findings suggest that alteration of SP expression in brainstem may be involved in autonomic dysregulation, and may be one of the causes of aspiration in Mecp2-null mice.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Kida H,Takahashi T,Nakamura Y,Kinoshita T,Hara M,Okamoto M,Okayama S,Nakamura K,Kosai KI,Taniwaki T,Yamashita Y,Matsuishi Tdoi
10.1038/s41598-017-12293-8subject
Has Abstractpub_date
2017-09-20 00:00:00pages
12032issue
1issn
2045-2322pii
10.1038/s41598-017-12293-8journal_volume
7pub_type
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