Farrar G Jane, Kenna Paul F, Humphries Peter
The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin 2, Ireland.
EMBO J. 2002 Mar 1;21(5):857-64. doi: 10.1093/emboj/21.5.857.
Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we provide an overview of the molecular pathologies associated with such disorders, from which it becomes clearly apparent that RP is one of the most genetically heterogeneous of hereditary conditions for which molecular pathologies have so far been elucidated. While heterogeneity of such magnitude would appear to represent a major impediment to the development of therapeutics, mutation-independent approaches to therapy are being developed to effectively by-pass such diversity in genetic aetiology. The implications of such technologies in terms of therapeutic intervention in RP, and indeed other genetically heterogeneous conditions, will be addressed.
视网膜色素变性(RP)是一组涉及视网膜光感受器死亡的遗传性疾病,是发达国家劳动人口中视力障碍的最常见原因。在此,我们概述了与此类疾病相关的分子病理学,从中可以清楚地看出,RP是迄今为止已阐明分子病理学的遗传性疾病中基因异质性最高的疾病之一。虽然如此程度的异质性似乎是治疗方法开发的主要障碍,但正在开发不依赖于突变的治疗方法,以有效绕过遗传病因学中的这种多样性。将探讨此类技术在RP以及其他基因异质性疾病的治疗干预方面的意义。