Hudson D.M.,Rfseq 1University of Washington |
Joeng K.S.,Baylor College of Medicine |
Werther R.,Rfseq 1University of Washington |
Rajagopal A.,Baylor College of Medicine |
And 3 more authors.
Journal of Biological Chemistry | Year: 2015
Background: Mutations in LEPREL1, the gene encoding prolyl 3-hydroxylase-2 (P3H2), cause severe nonsyndromic myopia. Results: Collagens I and IV from P3h2-null mouse eye tissues were significantly reduced in 3-hydroxylation compared with wild-type littermates. Conclusion: Loss of P3h2 causes altered collagen prolyl 3-hydroxylation from multiple tissues. Significance: Improved understanding of molecular mechanisms of myopia could aid in early diagnosis and treatment of irreversible vision loss. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.