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

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K10171
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Yamagata University
• Principal Investigator: Sasaki Ayako 山形大学, 医学部, 准教授 (60333960)
• Co-Investigator(Kenkyū-buntansha): 早坂 清 山形大学, 医学部, 名誉教授 (20142961)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 先天性中枢性低換気症候群 / PHOX2B遺伝子 / 遺伝子診断

Outline of Final Research Achievements

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.

Free Research Field

新生児学

Academic Significance and Societal Importance of the Research Achievements

日本における先天性中枢性低換気症候群の遺伝子型と表現型の関係を検討し発表することで，疾患の認知度を向上させることで、早期診断につながるようになると考えられる．さらに人工呼吸管理法と発達の関連を検討ことにより，患者のよりよいQuality of lifeに貢献できる．