MAJOR TOPIC
CYFIP2 단백질 기능 규명 및 기능 이상에 의한 신경질환 발병 기전 연구
CYFIP2 (Cytoplasmic FMR1-interacting protein 2) 단백질은 최근 지적장애(intellectual disability), 뇌전증(epilepsy), 발달장애 등을 보이는 소아에서 그 유전적 변이가 보고되어 정상적인 뇌 발달 및 기능에서 중요한 역할을 할 것으로 추측되고 있습니다.
본 연구실에서는 액틴세포골격(actin cytoskeleton) 및 mRNA 조절 등 CYFIP2 단백질의 세포 내 기능을 중심으로, CYFIP2 단백질이 어떻게 정상적인 뇌 발달 및 기능에 관여하는지, 환자에서 발결된 CYFIP2 변이가 어떻게 신경질환을 유발하는지, 다양한 마우스 모델을 활용하여 연구하고 있습니다.
Research on the function of CYFIP2 and its role in neurodevelopmental disorders
CYFIP2 (cytoplasmic FMR1-interacting protein 2) has recently emerged as a key molecule implicated in neurodevelopmental disorders, characterized by intellectual disability, epilepsy, and developmental delay, through the identification of pathogenic genetic variants in affected patients. These findings suggest that CYFIP2 plays an essential role in normal brain development and neuronal function.
My laboratory investigates the cellular and molecular functions of CYFIP2, with a particular focus on its roles in actin cytoskeleton regulation and mRNA processing. Using a range of genetically engineered mouse models, we aim to elucidate how CYFIP2 contributes to normal brain development and function, and how disease-associated CYFIP2 variants disrupt these processes to drive the pathogenesis of neurodevelopmental disorders.
References
Zhang Y, Lee Y, Han K (2019) Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy. BMB Rep 52:304-311.
Ma R*, Kim US*, Chung Y*, Kang HR, Zhang Y, Han K (2025) Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models. Brain Dev 47:104302 .