ISSN 2756-3324
African Journal of Medicine and Surgery ISSN 2756-3324 Vol. 12 (1), pp. 001-005, January, 2025. Available online at www.internationalscholarsjournals.org © International Scholars Journals
Full Length Research Paper
Investigating the Role of DLAD Mutations in Age-Related Nuclear Cataract: Findings of No Mutation Presence
Nitza Goldenberg-Cohen1,5,6*, Bat Chen R. Avraham-Lubin1, Dorina Calles1, Olga Dratviman-Storobinsky1, Rita Ehrlich4, Boris Paritiansky4, Yoram Cohen3 and Dov Weinberger4,6
1The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petah Tiqwa, Israel. 2The Mina and Everard Goodman Faculty of Life Sciences, Bar Ilan University, Ramat Gan, Tel Aviv, Israel. 3Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel. 4Department of Ophthalmology, Rabin Medical Center, Petach Tiqwa, Israel. 5Pediatric Unit, Rabin Medical Center, Petach Tiqwa, Israel. 6Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Accepted 22 November, 2024
Abstract
DNase II like acid DNase (DNase IIβ, DLAD) is expressed in human and murine cells in the lens. Studies in mice have reported that abnormal degeneration of cellular organelles by DLAD reduced lens transparency and that the DLAD gene may be involved in cataract formation. The aim of the present study was to search for possible genetic alterations in the DLAD gene in human senile cataract. Anterior lens capsule material was collected during surgery from 55 patients with senile cataract, with or without a subcapsular component. Total DNA was extracted, amplified by polymerase chain reaction and sequenced for exon 3 (n = 51) exon 4 (n = 40) and all 6 exons of the DLAD gene (n = 27). No mutation was found. There were genomic polymorphisms in all exons except 3 and 4. Nonsynonymous genomic polymorphisms were detected in exon 1 (rs738573) and exon 2 (rs3754274) and synonymous polymorphisms were detected in exon 5 (rs7511984) and exon 6 (rs3768250). In contrast to findings in mice, based on the limited samples analyzed, this study suggests that human age-related nuclear cataract is not associated with DLAD mutations.
Key words: DNAase II like acid DNAase- DNAse IIβ- DLAD- senile cataract-nuclear cataract.