유전질환 신경 세로이드 리포푸신증들에 대한 고찰 = Genetic and molecular mechanisms in the neuronal ceroid-lipofuscinoses

국문 초록 (Abstract)

신경리포푸신증(NCLs)은 신경 퇴행 축적 질환으로 뇌에 자가형광물질을 포함한 다양한 물질의 축적이 야기되어 발생하며, 노던에필렙시를 제외한 모든 신경리포푸신증은 리소좀 축적 질환으로 분류된다. 이러한 신경리포푸신증은 전세계적으로 12,500명중 1명에게 발생되는 높은 발병 빈도를 나타내며 그 발병 시기에 따라 영아형, 영유아형, 유년형, 그리고 성인형과 같이 분류된다. 신경리포푸신증이 유발하는 의학적 증상로는 시각손실, 발작, 간질, 진행성 정신지체 등을 야기하여 소아성 치매라는 이야기를 들으며 증상이 심할 경우 환자가 사망에 이르게 된다. 신경퇴행성 리포푸신증의 원인은 유전자의 돌연변이 때문이라고 알려져 있으며 일부의 연구를 통해 태아의 발생과정 상 문제를 통해 질병이 야기되는 경우도 관찰이 되고 있으나 아직 그 분자발생학적 기전이 명확하게 규명되어있지 않은 현실이다. 현재 전 세계적으로 많은 연구가 수행되고 있어 그 결과가 주목되는 바이다.

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