Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

被引：25

作者：

Manley, Andrew ^{[1
]}

Meshkat, Bahar I. ^{[1
,2
]}

Jablonski, Monica M. ^{[1
,3
,4
,5
]}

Hollingsworth, T. J. ^{[1
,3
,6
]}

机构：

[1] Univ Tennessee, Hamilton Eye Inst, Coll Med, Dept Ophthalmol,Hlth Sci Ctr, Memphis, TN 38163 USA

[2] Univ Tennessee, Dept Physiol, Hlth Sci Ctr, Memphis, TN 38163 USA

[3] Univ Tennessee, Dept Anat & Neurobiol, Hlth Sci Ctr, Memphis, TN 38163 USA

[4] Univ Tennessee, Dept Pharmaceut Sci, Hlth Sci Ctr, Memphis, TN 38163 USA

[5] Univ Tennessee, Dept Genet Genom & Informat, Hlth Sci Ctr, Memphis, TN 38163 USA

[6] Univ Tennessee, Dept Microbiol Immunol & Biochem, Hlth Sci Ctr, Memphis, TN 38163 USA

来源：

BIOMOLECULES | 2023年 / 13卷 / 02期

关键词：

inherited retinal dystrophy; retinitis pigmentosa; leber congenital amaurosis; stargardt's disease; rod-cone dystrophy; cone-rod dystrophy; molecular mechanisms of pathogenesis; BARDET-BIEDL SYNDROME; DOMINANT RETINITIS-PIGMENTOSA; LEBER CONGENITAL AMAUROSIS; VERTEBRATE PHOTOTRANSDUCTION CASCADE; ROD-CONE DYSTROPHY; GENOTYPE-PHENOTYPE CORRELATION; LIGHT-DEPENDENT TRANSLOCATION; FATTY ALDEHYDE DEHYDROGENASE; GTPASE-ACCELERATING PROTEIN; OUTER SEGMENT PHAGOCYTOSIS;

D O I：

10.3390/biom13020271

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, when mutated, produce altered protein products that have downstream effects in pathways critical to vision, including phototransduction, the visual cycle, photoreceptor development, cellular respiration, and retinal homeostasis. The aim of this manuscript is to provide a comprehensive review of the underlying molecular mechanisms of pathogenesis of IRDs by delving into many of the genes associated with IRD development, their protein products, and the pathways interrupted by genetic mutation.

引用

页数：44

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