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DHA Levels in Rod Outer Segments of Transgenic Mice Expressing G90D Rhodopsin Mutations

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New Insights Into Retinal Degenerative Diseases

Abstract

Previous studies in humans with a variety of inherited retinal degenerations have shown that they have reduced blood levels of docosahexaenoic acid (DHA, 22:6n-3) (ref. 1–10), the major fatty acid in photoreceptor rod outer segment (ROS) membranes11. The greatest differences are seen in people with x-linked retinitis pigmentosa7 and Usher’s syndrome type II (ref 10). Since the gene defect in these two types of inherited retinal degeneration is different, it is not likely that the reduction in blood levels of DHA is due directly to the mutation. Until recently, none of the mutations identified in retinitis pigmentosa were found in genes encoding proteins that are involved in lipid metabolism. However, Zhang et al12 found that two forms of macular degeneration (Stargardt-like macular dystrophy and autosomal dominant macular dystrophy) map to a 0.6 cM interval on chromosome 6ql4 that contains a new retinal photoreceptor-specific gene, ELOVL4, which has sequence homology to a yeast protein that functions in the synthesis of very long chain fatty acids (also see chapter in this book).

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Robert E. Anderson & Maureen B. Maude

  2. Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Robert E. Anderson & Muna I. Naash

  3. Dean A. McGee Eye Institute, Oklahoma City, OK, USA

    Robert E. Anderson & Maureen B. Maude

  4. Department of Ophthalmology, Kellogg Eye Center, Ann Arbor, MI, USA

    Paul A. Sieving & Ronald A. Bush

  5. Department of Ophthalmology, Wilmer Eye Institute JHU, Baltimore, MD, USA

    Ting-Huai Wu

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  1. Robert E. Anderson
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  4. Maureen B. Maude
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  6. Muna I. Naash
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Editor information

Editors and Affiliations

  1. Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  2. Beckman Vision Center, University of California, San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  3. Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Joe G. Hollyfield

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© 2001 Springer Science+Business Media New York

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Anderson, R.E., Sieving, P.A., Bush, R.A., Maude, M.B., Wu, TH., Naash, M.I. (2001). DHA Levels in Rod Outer Segments of Transgenic Mice Expressing G90D Rhodopsin Mutations. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) New Insights Into Retinal Degenerative Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1355-1_26

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  • DOI: https://doi.org/10.1007/978-1-4615-1355-1_26

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-5513-7

  • Online ISBN: 978-1-4615-1355-1

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