title: Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.
abstract: Micro-RNAs (miRNAs) are regulators of gene expression that control various biological processes. The role of many identified miRNAs is not yet resolved. Recent evidence suggests that miRNA mutations and/or misexpression may contribute to genetic disorders. Point mutations in the seed region of MIR184 have been recently identified in Keratoconus (KC) patients with or without other corneal and lens abnormalities. We investigated mutations within MIR184 in KC patients from Saudi Arabia and examined the relative expression of miR-184 and miR-205 in human cornea. Ethnically matched KC cases (n = 134) were recruited and sequencing was performed using PCR-based Sanger sequencing and analyzed using the Sequencher 5.2 software. Expression of miR-184 and miR-205 was profiled in postmortem unaffected ocular tissues obtained from donors with no history of ocular diseases. miR-184 expression was 15-fold higher than that of miR-205 in cornea samples. No mutation(s) within the screened genomic region of MIR184 in KC cases was detected. This suggests that mutation in MIR184 is a rare cause of KC alone and may be more relevant to cases of KC associated with other ocular abnormalities. The increased expression of miR-184 versus miR-205 in normal cornea samples implies a possible role of miR184 in cornea development and/or corneal diseases.
authors.affiliation: Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.affiliation: Department of Cellular Biology and Anatomy, the Medical College of Georgia, Georgia Regents University, Augusta, GA, USA.
authors.forename: Inas
authors.initials: I
authors.lastname: Helwa
authors.affiliation: Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Al-Muammar
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC, USA.
authors.forename: Shelby
authors.initials: S
authors.lastname: Strickland
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC, USA ; Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.affiliation: Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA.
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
authors.affiliation: Department of Cellular Biology and Anatomy, the Medical College of Georgia, Georgia Regents University, Augusta, GA, USA.
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
mesh_terms: D003315:Cornea / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D007640:Keratoconus / Q000235:genetics* / Q000473:pathology; D008297:Male; D035683:MicroRNAs / Q000096:biosynthesis* / Q000235:genetics; D009154:Mutation
chemical_list: D035683:MicroRNAs; C534424:MIRN184 microRNA, human; C534425:MIR205, human