The relationship between major intrinsic protein genes and cataract
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REVIEW
The relationship between major intrinsic protein genes and cataract Wen Sun . Jiawei Xu . Yangshun Gu . Chixin Du
Received: 19 March 2020 / Accepted: 29 August 2020 Ó Springer Nature B.V. 2020
Abstract Background Genetic factors play an essential role in the development of cataracts, and the major intrinsic protein (MIP) gene is a type of causative genes. Our study aims to discuss the current research progress of MIP genes responsible for cataractogenesis in DNA and protein levels, which is essential in achieving a response to the molecular deficiencies and pathophysiologic features of cataract. Methods We developed a search strategy using a combination of the words ‘‘Cataract’’, ‘‘Mutation’’, ‘‘MIP gene’’, and ‘‘AQP0’’ to identify all articles from PubMed, Web of Science, Scopus, and Google Scholar up to December 2019. To find more articles and to ensure that databases were thoroughly searched, the reference lists of selected items were also reviewed. Results A total of 29 MIP gene mutations causing congenital cataract were obtained by searching these databases and analyzing the results of genetic mutation pathogenicity prediction software tools; most of them caused amino acid codon changes in the H4, H5, H6, C-TIDs, and loop C in the structure of the MIP
Wen Sun and Jiawei Xu contributed equally to this work. W. Sun J. Xu Y. Gu C. Du (&) Department of Ophthalmology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79 Qingchun Road, 310003 Hangzhou, China e-mail: [email protected]
protein. However, there was no clear causality between lens morphology, phenotypes, and genotypes. The genotype TC in polymorphism c.-4T [ C and haplotype CCG of rs2269348, c.-4T [ C, and rs74641138 in MIP may attach an additional genetic risk factor for age-related cataract. Conclusion These single-base mutations and single nucleotide polymorphisms might be importantly involved in the pathogenesis of congenital cataract and age-related cataract, respectively. This review provides a significant reference for clinical trials and theoretical studies. Keywords Major intrinsic protein Gene mutation Cataract Single nucleotide polymorphisms
Introduction The opacity of the ocular lens is defined as cataracts. The pathogenesis of cataracts has always been a hot research area, and studies are increasingly concerned about the relationship between genes and cataracts. These studies not only include congenital cataract whose hereditary is well known but also age-related cataract (ARC) whose genetic association can usually be ignored. With the increase of genetic studies, more and more causative genes have surfaced [1, 2]. The major intrinsic protein (MIP) gene encodes the most abundant junctional membrane protein in the mature
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Int Ophthalmol
lens, and plays a critical role in the maintenance of normal lens structure and internal circulation. The goal of this review is to summarize current research progress in MIP genes of cataract, and to shed l
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