Hisama Fuki M, Oshima Junko, Martin George M
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195 International Registry of Werner Syndrome, University of Washington School of Medicine, Seattle, Washington 98195.
Department of Pathology, University of Washington School of Medicine, Seattle, Washington 98195 International Registry of Werner Syndrome, University of Washington School of Medicine, Seattle, Washington 98195 Department of Medicine, Chiba University, Chiba 260-8670, Japan.
Cold Spring Harb Perspect Med. 2016 Apr 1;6(4):a025882. doi: 10.1101/cshperspect.a025882.
Although translational applications derived from research on basic mechanisms of aging are likely to enhance health spans and life spans for most of us (the longevity dividend), there will remain subsets of individuals with special vulnerabilities. Medical genetics is a discipline that describes such "private" patterns of aging and can reveal underlying mechanisms, many of which support genomic instability as a major mechanism of aging. We review examples of three classes of informative disorders: "segmental progeroid syndromes" (those that appear to accelerate multiple features of aging), "unimodal progeroid syndromes" (those that impact on a single disorder of aging), and "unimodal antigeroid syndromes," variants that provide enhanced protection against specific disorders of aging; we urge our colleagues to expand our meager research efforts on the latter, including ancillary somatic cell genetic approaches.
虽然源自衰老基本机制研究的转化应用可能会延长我们大多数人的健康寿命和寿命(长寿红利),但仍会有一些具有特殊脆弱性的个体亚群。医学遗传学是一门描述此类“个体特异性”衰老模式并能揭示潜在机制的学科,其中许多机制支持基因组不稳定是衰老的主要机制。我们回顾了三类信息丰富的病症实例:“节段性早衰综合征”(那些似乎加速衰老多个特征的病症)、“单峰早衰综合征”(那些影响单一衰老病症的病症)以及“单峰抗衰综合征”,即能增强对特定衰老病症保护作用的变体;我们敦促同行扩大对后者的研究力度,包括辅助性体细胞遗传学方法,目前这方面的研究还很薄弱。