Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders. 15 years after its discovery, FMR1 continues to reveal new and unexpected clinical presentations and molecular mechanisms. Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental retardation, autism, anxiety, and mood instability. In addition, overexpression and CNS toxicity of FMR1 mRNA causes a late-onset neurodegenerative disorder, the fragile-X-associated tremor/ataxia syndrome (FXTAS). A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene.

译文

我们对脆性X智力低下1基因FMR1的临床和分子特征的理解的最新进展突显了单基因疾病的重要性。在发现FMR1 15年后,它继续揭示新的和意想不到的临床表现和分子机制。FMR1功能丧失是神经发育和行为障碍的模型,包括智力低下,自闭症,焦虑和情绪不稳定。此外,FMR1 mRNA的过表达和CNS毒性会导致迟发性神经退行性疾病,即脆性X相关的震颤/共济失调综合征 (FXTAS)。类似的机制可能与卵巢早衰有关,其影响多达20% 的FMR1基因改变的女性携带者。

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