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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
Open accessAbstract
ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as the Rim protein and ABCR, is a large 2,273 amino acid glycoprotein organized as two tandem halves, each containing a single membrane spanning segment followed sequentially by a large exocytoplasmic domain, a multispanning membrane domain and a nucleotide binding domain. Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration, cone-rod dystrophy and a subset of retinitis pigmentosa. Biochemical studies on the purified ABCA4 together with analysis of abca4 knockout mice and patients with Stargardt disease have implicated ABCA4 as a retinylidene-phosphatidylethanolamine transporter that facilitates the removal of potentially reactive retinal derivatives from photoreceptors following photoexcitation. Knowledge of the genetic and molecular basis for ABCA4 related retinal degenerative diseases is being used to develop rationale therapeutic treatments for this set of disorders.
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“As A2E can not be further metabolized and as RPE cells are postmitotic, A2E and related bisretinoids accumulate in the RPE in the form of lipofuscin deposits.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“In the membranes of outer photoreceptor segments are nonenzymatically formed toxic bisretinoids. Upon phagocytosis, these bisretinoids are in the acidic environment of RPE phagolysosomes converted to bisretinoid pyridinium compound A2E and related bisretinoids [54,69,70,71,72,73,74].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“ABCA4 dysfunction leads to the accumulation of vitamin A derivatives and toxic compounds, as they cannot be efficiently removed from the photoreceptor outer segment.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“In STGD1, cone degeneration is more severe and occurs before rod degeneration [69,94].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“The latter are insoluble, have a tendency to aggregate and accumulate as lipofuscin deposits in the RPE cells, compromising RPE function and leading to cell death.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“But this process could be facilitated by ATP-dependent transporters such as ABCA476,485−487 or the channel-like property of STRA6.488−492”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [487]
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“The connection between delayed all-trans-retinal clearance, lipofuscin buildup, and retinal degeneration is exemplified by Stargardt disease, a human condition in which juvenile macular degeneration is caused by mutations in both alleles of the ABCA4 gene.487,545”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [487]
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“Through this process, a new membrane is added at the base of the outer segments while aged outer segment ends are removed by shedding and phagocytosis by adjacent RPE cells [69].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Lipofuscin is an autofluorescent cellular waste product that compromises the function and viability of RPE cells and ultimately results in photoreceptor degeneration and a loss of vision [54,69,73,74,75].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Trapped vitamin A derivatives and toxic compounds can react nonenzymatically, leading to the formation of toxic bisretinoids.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Upon phagocytosis of outer segments by adjacent RPE cells, the bisretinal compounds can be hydrolyzed by lysosomal enzymes to highly toxic metabolite A2E.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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Metadata
- Authors
- Molday, R. S., Zhong, M., & Quazi, F.
- Affiliations
- University of British Columbia (CA)
- Corresponding author
- Molday, Robert S.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- Publisher
- Elsevier BV
- Published
- 2009-07
- Volume
- 1791
- Issue
- 7
- Pages
- 573-583
- ISSN
- 1388-1981 (ISSN-L)
- PMC
- PMC2746242
- OpenAlex
- W2031287535
- Cited by
- 182
- References
- 131
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 7 · 2023: 6 · 2022: 11 · 2021: 11 · 2020: 13 · 2019: 22 · 2018: 15 · 2017: 8 · 2016: 9 · 2015: 11 · 2014: 5 · 2013: 7 · 2012: 11
- FWCI
- 1.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Macula Vision Research Foundation
- National Eye Institute (EY02422, R01EY002422)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- ABCA4, ABC transporters, lipid transport, photoreceptors, retinal degeneration, cone-rod dystrophy, retinitis pigmentosa, ABCA4 mutations
- MeSH terms
- Amino Acid Sequence, Animals, Biological Transport, Humans, Macular Degeneration, Molecular Sequence Data, Mice, Knockout, ATP-Binding Cassette Transporters, Lipid Metabolism, Mice
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