ArticleThe Journal of clinical investigation2011
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
Article in The Journal of clinical investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 57 citations in OpenAlex.
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Scientific reports · 2017Trial
- Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing.Scientific reports · 2025Article
- The extract of dendrobium Coelonin inhibits PIH induced by AFR COPhotochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology · 2025Article
- TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.Investigative ophthalmology & visual science · 2025Article
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.European journal of human genetics : EJHG · 2024Article
- Increased prevalence of Parkinson's disease in alkaptonuria.JIMD reports · 2023Article
- An Individualized Prognostic Model in Patients with Locoregionally Advanced Nasopharyngeal Carcinoma Based on Serum Metabolomic Profiling.Life (Basel, Switzerland) · 2023Article
- In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.Stem cell reports · 2022Article
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Investigative ophthalmology & visual science · 2022Article
- Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.JIMD reports · 2021Article
- Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.Pigment cell & melanoma research · 2020Article
- Nonhuman Primate Model of Oculocutaneous Albinism withResearch (Washington, D.C.) · 2020Article
- Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.Investigative ophthalmology & visual science · 2018Article
- [Oculocutaneous and ocular albinism].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2017Review
- Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Pigment cell & melanoma research · 2017Article
- Relationship between foveal cone specialization and pit morphology in albinism.Investigative ophthalmology & visual science · 2014Article
- Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.PloS one · 2014Article
- Mutational analysis of oculocutaneous albinism: a compact review.BioMed research international · 2014Review
- DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Human mutation · 2013Review
- The battlefield of rare diseases: where uncommon insights are common.Science translational medicine · 2012Article
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12 authors at 4 institutions in 1 country.
Funding
Abstract
Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with the latter produce some melanin. We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1. Here, we tested this hypothesis in mice homozygous for either the Tyrc-2J null allele or the Tyrc-h allele, which model OCA-1A and OCA-1B, respectively. Only nitisinone-treated Tyrc-h/c-h mice manifested increased pigmentation in their fur and irides and had more pigmented melanosomes. High levels of tyrosine improved the stability and enzymatic function of the Tyrc-h protein and also increased overall melanin levels in melanocytes from a human with OCA-1B. These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss.
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