Genetic basis of hypoxic encephalopathy and epilepsy in preterm infants

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K16301
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Kyushu University
• Principal Investigator: Torio Michiko 九州大学, 大学病院, 助教 (00725864)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 早産児 / 脳傷害 / てんかん / 遺伝学的背景

Outline of Final Research Achievements

The clinical features of 35 patients born with a birth weight of less than 1500 g(Very low birth weight infant: VLBWI) and diagnosed with epilepsy were examined. Periventricular leukomalacia appeared at higher frequencies in both the focal epilepsy group and the infantile spasm group. Univariate analyses revealed that small gestational age, low birth weight, late-onset circulatory collapse, and MRI abnormalities showed an association with epilepsy. We found that all these factors were common with intellectual disability, but not with ASD / ADHD. Array CGH analysis was performed in 12 VLBWIs who developed epilepsy. A 2.2 Mb duplication in the 8p23.2 region was identified in one patient and was thought to have contributed to the development of epilepsy.

Free Research Field

小児神経、てんかん、脳性麻痺

Academic Significance and Societal Importance of the Research Achievements

てんかんの発症には、脳室周囲白質軟化症が関係していることが改めて確認された。また、てんかん発症に関連する周産期リスク因子は、知的発達症のリスク因子と共通していたころから、これらには共通する発症メカニズムが示唆された。一部の被験者からは、てんかんに関係する遺伝子のコピー数異常が認められたことから、早産児におけるてんかんの発生には、外的要因だけでなく、遺伝学的背景が関与している場合があることが示唆された。