The role of abnormal expression of the PDE6b gene in retinitis pigmentosa
10.12025/j.issn.1008-6358.2017.20161014
- VernacularTitle:磷酸二酯酶6b基因异常表达对视网膜色素变性的作用
- Author:
Li YUAN
1
;
Yan LIU
;
Te LIU
Author Information
1. 上海交通大学医学院附属第一人民医院眼科
- Keywords:
pde6b;
retina;
rd1;
gene deletion;
retinitis pigmentosa
- From:
Chinese Journal of Clinical Medicine
2017;24(3):455-460
- CountryChina
- Language:Chinese
-
Abstract:
Phosphodiesterases (PDEs) are a large family of proteins divided into 11 subfamilies, namely PDE1-PDE11.PDE6 is a PDEs subfamily, the PDE protein encoded by the PDE6 gene, which hydrolyses cGMP, the specific receptor of rod outer segment membrane disc ion channels and also an important molecule in the vertebrate photoreceptor cells that converts light signals into electrical signals.The deletion of pde6b gene results in a nonfunctional PDE and an accumulation of cGMP in the photoreceptor cells, causing the increase of cationic photoreceptor cells, cell poisoning and cell death.The photoreceptor cells in the retina constantly deteriorate, indirectly affecting the retina converting the light signals into electrical signals.The abnormal expression of pde6b gene is one of the most important causes of autosomal recessive retinitis pigmentosa.Therefore, the abnormal expression of pde6b gene in animal models and familial inheritance has gradually become the focus of research in recent years.This paper focuses on the structure, function, and mutation types of pde6b gene, and their influence on the corresponding structure and function of retinitis pigmentosa.
