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ORIGINAL ARTICLE
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A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma


1 School of Biology, College of Science, University of Tehran, Tehran, Iran
2 Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4 School of Biology, College of Science; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran

Correspondence Address:
Elahe Elahi,
School of Biology, College of Science, University of Tehran, Tehran
Iran
Shahin Yazdani,
Labbafinejad Medical Center, Paidarfard St., Boostan 9 St., Pasdaran, Tehran 16666
Iran
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Source of Support: None, Conflict of Interest: None

  Abstract 

Purpose: Mutations in LTBP2 that encodes an extracellular matrix protein were shown to be cause of primary congenital glaucoma and have been observed in patients affected with primary open angle glaucoma (POAG) and other optical disorders often accompanied by glaucoma including pseudoexfoliation (PEX) syndrome. There is some evidence that LTBP2 mutations may also contribute to primary angle closure glaucoma (PACG). Here, we aim to assess whether LTBP2 mutations are present in a cohort affected with PACG.
Methods: The 36 exons of LTBP2 in 55 Iranian PACG affected individuals were amplified by polymerase chain reaction (PCR) and sequenced by the Sanger protocol. The sequences were compared with LTBP2 reference sequences.
Results: Twenty-four sequence variations were observed, ten of which were in amino acid coding regions. Four of these created synonymous codons, and six affected amino acid changes. Based on allele frequencies, biochemical parameters, absence in control individuals, evolutionary conservation of affected amino acids, and bioinformatics predictions on effects on protein function, it was assessed that two mutations that cause p.Gln1417Arg and p.Gly1660Trp may contribute to the PACG status of the two patients harboring the mutations. The p.Gly1660Trp mutation was observed in a patient that was affected with both PACG and PEX syndrome. p.Gln1417Arg had previously been reported only in an individual affected with POAG.
Conclusion: LTBP2 may make a contribution to the etiology of PACG. This finding emphasizes that there may be overlap in the etiology of various forms of glaucoma. The overlaps likely contribute to common features of the various glaucoma forms.

Keywords: PACG; Primary Angle Closure Glaucoma; LTBP2; p.Gln1417Arg; p.Gly1660Trp



How to cite this URL:
Safari I, Akbarian S, Yazdani S, Elahi E. A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma. J Ophthalmic Vis Res [Epub ahead of print] [cited 2017 Mar 24]. Available from: http://www.jovr.org/preprintarticle.asp?id=158889

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