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Cataract and Cataract Surgical Coverage
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Olusola Olawoye, Priya Adhisesha Reddy, Ving Fai Chan, Prabhath Piyasena, Nathan Congdon
More than 25 loci and genes on different chromosomes have been identified in congenital cataracts.46 Distinct gene mutations which encode the cytoplasmic proteins of human lens are associated with cataracts of different morphologies. These include genes coding for crystallins (CRYA, CRYB, and CRYG),47 connexins (Cx43, Cx46, and Cx50),48 major intrinsic proteins,49 cytoskeletal structural proteins,50 and heat shock transcription factor 4 (HSF4).51
Companion Animals Models of Human Disease
Published in Rebecca A. Krimins, Learning from Disease in Pets, 2020
Despite the large number of breeds affected with hereditary cataracts (HC), little is known about the genetics of the condition, and to date only a single gene, HSF4, has been implicated in the development of the disease in dogs. Using DNA samples from almost 400 privately owned Australian Shepherds, researchers have investigated the association between the deletion mutation in HSF4 and cataracts in this breed. The authors have revealed that the mutation is significantly associated with cataracts and that a dog carrying the mutation is approximately 17 times more likely to develop binocular cataracts than dogs that are clear of the mutation. The data also indicate that additional mutations associated with the development of cataracts are likely to be co-segregating in the Australian Shepherd population.
Transcriptomic analysis of the Non-Obstructive Azoospermia (NOA) to address gene expression regulation in human testis
Published in Systems Biology in Reproductive Medicine, 2023
Govindkumar Balagannavar, Kavyashree Basavaraju, Akhilesh Kumar Bajpai, Sravanthi Davuluri, Shruthi Kannan, Vasan S. Srini, Darshan S. Chandrashekar, Neelima Chitturi, Kshitish K. Acharya
SP1 has been reported to be one of the key transcriptional regulators for normal spermatogenesis (Thomas et al. 2007; Zhu et al. 2016). It plays a role in chromatin remodeling and DNA damage break repair (Beishline and Kelly 2012). Chromatin remodeling is a key process during the protamine transition process in the post-meiosis stage of spermatogenesis (Govin et al. 2004; Rathke et al. 2014). RAD51 is essential for spermatogonia maintenance and meiotic progression (Qin et al. 2022), mainly for the prophase stage (Dai et al. 2017). Heat shock family proteins are known to play a role in spermatogenesis (Chalmel et al. 2012; Hemati et al. 2020), but HSF4, which is explored in limited cases (Syafruddin et al. 2021), has been known to be an activator as well as a repressor (Tanabe et al. 1999) and required for cell differentiation (Fujimoto et al. 2004). However, its implication in spermatogenesis and NOA condition is highlighted only by the current study.
Genetic disease is a common cause of bilateral childhood cataract in Denmark
Published in Ophthalmic Genetics, 2021
Line Kessel, Daniella Bach-Holm, Moug Al-Bakri, Laura Roos, Allan Lund, Karen Grønskov
The 62 children with hereditary cataract came from 36 different families, 17 children (8.1% of all children and 27.4% of children with hereditary cataracts) came from a family originally described by Marner et al (9). Eight children belonged to five families that had been reported previously (10–14). In 10 children (9 families), other genetic causes of the cataracts were found. Because of the large number of children from one family, variants in HSF4 was the most common cause of cataract in this group but variants in GJA3 and HSF4 each accounted for three different families. In five unrelated children with a clearly autosomal dominant inheritance pattern no causative variants could be found after NGS testing. The remaining 16 families (22 of the 211 children) had not been offered or had declined a genetic work-up.
Exome Array Analysis of Nuclear Lens Opacity
Published in Ophthalmic Epidemiology, 2018
Stephanie J. Loomis, Alison P. Klein, Kristine E. Lee, Fei Chen, Samantha Bomotti, Barbara Truitt, Sudha K. Iyengar, Ronald Klein, Barbara E. K. Klein, Priya Duggal
Genetics also contribute to nuclear cataract, with heritability estimates of 35–48%.5–9 A genome-wide association study (GWAS) for nuclear cataract in Asians identified significant SNPs on chromosome 3 in KCNAB1 and on chromosome 21 near CRYAA,10 a gene that codes for a protein expressed in the eye that affects lens opacity. In addition, several studies have examined if variation in GJA3, GJA8, MIP, HSF4, LIM2, and CRYAA,11–13 which have established associations with congenital cataract, also play a role in age-related cataract. The results of these studies are inconsistent or lack replication.14 One GWAS examined all age-related cataract subtypes combined in over 7,000 individuals and identified variants of suggestive, but not genome-wide significance.15