International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

Lack of DLAD mutations in age-related nuclear cataract

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.
Email: [email protected]

  •  Accepted: 22 June 2010
  •  Published: 30 June 2010

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. Non-synonymous 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.