Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA.
Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA.
Trends Genet. 2019 Oct;35(10):754-767. doi: 10.1016/j.tig.2019.07.004. Epub 2019 Jul 31.
Ribosomopathies are a diverse subset of diseases caused by reduced expression of, or mutations in, factors necessary for making ribosomes, the protein translation machinery in the cell. Despite the ubiquitous need for ribosomes in all cell types, ribosomopathies manifest with tissue-specific defects and sometimes increased cancer susceptibility, but few treatments target the underlying cause. By highlighting new research in the field, we review current hypotheses for the basis of this tissue specificity. Based on new work, we broaden our understanding of the role of ribosome biogenesis in diverse tissue types throughout embryonic development. We also pose the question of whether previously described human conditions such as aging can be at least partially attributed to defects in making ribosomes.
核糖体病是一组由细胞内蛋白质翻译机器核糖体的必需因子表达减少或突变引起的多种疾病。尽管核糖体在所有细胞类型中都普遍存在，但核糖体病表现出组织特异性缺陷，有时还会增加癌症易感性，但很少有治疗方法针对潜在病因。通过强调该领域的新研究，我们回顾了目前对这种组织特异性基础的假设。基于新的工作，我们扩大了对核糖体生物发生在整个胚胎发育过程中对不同组织类型的作用的理解。我们还提出了这样一个问题，即以前描述的人类状况，如衰老，是否至少部分归因于核糖体生成缺陷。
