APP基因的截短突变会导致一种独特的神经学表型。
Truncating mutations in APP cause a distinct neurological phenotype.
作者信息
Klein Steven, Goldman Alexander, Lee Hane, Ghahremani Shahnaz, Bhakta Viraj, Nelson Stanley F, Martinez-Agosto Julian A
机构信息
Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.
出版信息
Ann Neurol. 2016 Sep;80(3):456-60. doi: 10.1002/ana.24727. Epub 2016 Aug 4.
Abstract
Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aβ. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80:456-460.
摘要
淀粉样β（Aβ）前体蛋白（APP）基因中的显性错义突变与早发性阿尔茨海默病有关。这些突变改变蛋白质结构，有利于Aβ的病理性产生。我们报告称，APP中的纯合无义突变与身体生长发育迟缓、小头畸形、肌张力减退、发育延迟、胼胝体变薄和癫痫发作有关。我们将该病例的表型与小鼠模型中报道的表型进行比较，并证明了多个相似之处，强化了淀粉样前体蛋白在正常脑功能和发育中的作用。《神经病学纪事》2016年；80:456 - 460。
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