Journal
JOURNAL OF PHYSIOLOGICAL SCIENCES
Volume 65, Issue 5, Pages 451-459Publisher
SPRINGER JAPAN KK
DOI: 10.1007/s12576-015-0384-5
Keywords
Rett syndrome; MeCP2; Brainstem; Breathing; Apnea; Plethysmograph
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Funding
- National Institutes of Health [HD-060959, NS-073875]
- International Rett Syndrome Foundation (IRSF)
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Rett syndrome (RTT) is a female neurodevelopmental disease with breathing abnormalities. To understand whether breathing defects occur in the early lives of a group of female Mecp2 (+/-) mice, a mouse model of RTT, and what percentage of mice shows RTT-like breathing abnormality, breathing activity was measured by plethysmography in conscious mice. Breathing frequency variation and central apnea in a group of Mecp2 (+/-) females displayed a distribution pattern similar to Mecp2 (-/Y) males, while the rest resembled the wild-type mice. Similar results were obtained using the k-mean clustering statistics analysis. With two independent methods, about 20 % of female Mecp2 (+/-) mice showed RTT-like breathing abnormalities that began as early as 3 weeks of age in the Mecp2 (+/-) mice, and were suppressed with 3 % CO2. The finding that only a small proportion of Mecp2 (+/-) mice develops RTT-like breathing abnormalities suggests incomplete allele inactivation in the RTT-model Mecp2 (+/-) mice.
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