Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg.
Dtsch Arztebl Int. 2019 Jul 22;116(29-30):489-496. doi: 10.3238/arztebl.2019.0489.
Segmental progeroid syndromes (SPS) are rare hereditary diseases in which the affected individuals show signs of premature aging in more than one organ or type of tissue. We review the clinical and genetic features of some of these syndromes and discuss the extent to which their study affords a complementary opportunity to study aging processes in general.
This review is based on publications retrieved by a selective search in PubMed.
Segmental progeroid syndromes are a clinically and genetically heterogeneous group of hereditary diseases. They can be categorized, for example, by the age of onset of manifestations (congenital vs. infantile vs. juvenile/adult forms). They are diagnosed on clinical grounds supplemented by genetic testing on the basis of next-generation sequencing, which is of central importance in view of the marked heterogeneity and complexity of their overlapping clinical features. The elucidation of the genetic and molecular causes of these diseases can lead to causally directed treatment, as shown by the initial clinical trials in Hutchinson- Gilford progeria syndrome. The molecular features of SPS are identical in many ways to those of "physiological" aging. Thus, studying the molecular mechanisms of SPS may be helpful for the development of molecularly defined treatment approaches for age-associated diseases in general.
Segmental progeroid syndromes are a complex group of diseases with overlapping clinical features. Current research efforts focus on the elucidation of the molecular mechanisms of these diseases, most of which are very rare. This should enable the development of treatments that might be applicable to general processes of aging as well.
节段性早老综合征（SPS）是一种罕见的遗传性疾病，受影响的个体在一个以上的器官或组织类型中表现出过早衰老的迹象。我们回顾了其中一些综合征的临床和遗传特征，并讨论了它们的研究在多大程度上为一般衰老过程的研究提供了互补机会。
本综述基于在 PubMed 中进行选择性搜索检索到的出版物。
节段性早老综合征是一组临床和遗传异质性的遗传性疾病。它们可以根据表现的发病年龄（先天性、婴儿期、青少年/成年形式）进行分类。它们是基于临床依据诊断的，辅以基于下一代测序的遗传测试，鉴于其重叠临床特征的明显异质性和复杂性，这一点至关重要。这些疾病的遗传和分子原因的阐明可以导致因果治疗，如在亨廷顿病性进行性肌阵挛性舞蹈病中的初步临床试验所示。SPS 的分子特征在许多方面与“生理性”衰老相同。因此，研究 SPS 的分子机制可能有助于开发针对一般与年龄相关疾病的分子定义治疗方法。
节段性早老综合征是一组具有重叠临床特征的复杂疾病。目前的研究重点是阐明这些疾病的分子机制，其中大多数疾病非常罕见。这应该能够开发出可能适用于一般衰老过程的治疗方法。
