Kelleher Raymond J, Bear Mark F
Center for Human Genetic Research, Harvard-Partners Center for Genetics and Genomics, Massachusetts General Hospital, Program in Neuroscience and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Cell. 2008 Oct 31;135(3):401-6. doi: 10.1016/j.cell.2008.10.017.
Autism is a complex genetic disorder, but single-gene disorders with a high prevalence of autism offer insight into its pathogenesis. Recent evidence suggests that some molecular defects in autism may interfere with the mechanisms of synaptic protein synthesis. We propose that aberrant synaptic protein synthesis may represent one possible pathway leading to autistic phenotypes, including cognitive impairment and savant abilities.
自闭症是一种复杂的遗传性疾病,但自闭症患病率较高的单基因疾病为其发病机制提供了线索。最近的证据表明,自闭症中的一些分子缺陷可能会干扰突触蛋白合成机制。我们认为,异常的突触蛋白合成可能是导致自闭症表型的一条可能途径,这些表型包括认知障碍和学者症候群。