探讨 IMDH1 相关性视网膜炎色素变性的病理机制

Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.

机构信息

Department of Biology, Brandeis University, Waltham, MA 02453, USA.

出版信息

Adv Exp Med Biol. 2012;723:539-45. doi: 10.1007/978-1-4614-0631-0_68.

Abstract

IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants. This moonlighting activity may involve the posttranscriptional regulation of rhodopsin mRNA. The adRP mutation D226N has reduced binding to nucleic acids and reduced association with polyribosomes. If this mutation perturbs the biosynthesis of rhodopsin in some way, this would explain a link between IMPDH and the mechanism of retinal degeneration.

摘要

IMPDH 在视网膜中有功能，显然与其酶活性无关，而是由视网膜特异性变体介导的。这种兼职活动可能涉及视紫红质 mRNA 的转录后调控。adRP 突变 D226N 与核酸的结合减少，与多核糖体的结合减少。如果这种突变以某种方式扰乱了视紫红质的生物合成，这将解释 IMPDH 与视网膜变性机制之间的联系。