Screening for MIR184 mutations in Iranian patients with keratoconus
Azad Farzadfard MS 1, Nader Nassiri MD 2, Tayebeh Nekuie Moghadam MS 3, Seyed Hassan Paylakhi PhD 4, Elahe Elahi PhD 5
1 Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran
2 Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran
4 Department of Cellular and Molecular Biology, School of Biology, Damghan University, Damghan, Iran
5 School of Biology, College of Science, University of Tehran, Tehran, Iran
School of Biology, College of Science, University of Tehran, Tehran
Source of Support: None, Conflict of Interest: None
Purpose: To investigate whether microRNA (MIR)-184 mutations make a substantial contribution to keratoconus (KCN) among affected Iranian patients.
Methods: A total of 47 Iranian KCN patients, diagnosed based on family history, clinical examinations using slit lamp biomicroscopy, refraction and corneal topography were enrolled in this study. The pri-miR-184 encoding gene obtained from the DNAs of all participants was amplified using polymerase chain reaction and subsequently sequenced by the Sanger dideoxynucleotide protocol. The sequences were compared to MIR184 reference sequence in order to identify sequence variations. The potential effects of a single variation observed on RNA structure was predicted.
Results: Only one sequence variation, +39G >T, was observed within the pri-miR-184 encoding sequence in one proband. The patient's KCN-affected sister harbored the same variation. The variation was not novel and was recently shown to be present at similar frequencies among large cohorts of KCN patients and control individuals.
Conclusion: Mutations in MIR-184 are not a major cause of keratoconus among Iranian patients. The pri-miR-184 sequence needs to be screened in larger cohorts in order to establish whether mutations in the gene are present at low frequencies among Iranian patients.