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Towards a treatment for congenital central hypoventilation syndrome based on the pathophysiology

Description: Congenital central hypoventilation syndrome is characterized by failure of the automatic control of breathing during sleep and impaired autonomic nervous system. We studied PHOX2B in 401 cases showing respiratory symptoms and detected disease-causing mutations in 151 cases.We analyzed genotype-phenotype relationship and developmental prognosis in 151 cases. The patients carrying long PARMs or most NPARMs presented with severe phenotype. We found mental retardation in 30% of all patients and no significant difference in their genotypes. And we found a favorable prognosis in the patients who received the ventilation support from day 0. We also analyzed two genes in 250 cases with no PHOX2B mutations. However, we didn’t find any mutation. It is very important to promptly make a diagnosis by molecular analysis and provide appropriate ventilator support.

Funder: Japan Society for the Promotion of Science

Amount: ¥4,680,000

Funding type: research

Funder scheme: Grant-in-Aid for Scientific Research (C)

Start date: 2017-04-01

End date: 2021-03-31

Investigator: Ayako Sasaki

Institution: Yamagata University

Topic: Neuroscience of respiration and sleep

Subfield: Endocrine and Autonomic Systems

Field: Neuroscience

Domain: Life Sciences