The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

Molday, Robert S.; Zhong, Ming; Quazi, Faraz

doi:10.1016/j.bbalip.2009.02.004

Cited by 182Retinal Development and DisordersRetinal Diseases and TreatmentsRetinoids in leukemia and cellular processes

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

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Molday, Robert S., Zhong, Ming, Quazi, Faraz·2009·Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

DOI 10.1016/j.bbalip.2009.02.004PMC PMC2746242

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Abstract

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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A2E cannot be further metabolized and RPE cells are postmitotic, so A2E and related bisretinoids accumulate in the RPE in the form of lipofuscin deposits.
“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]
Section 8 states that A2E cannot be further metabolized and that A2E and related retinal compounds progressively accumulate as lipofuscin deposits in RPE cells. It does not state that RPE cells are postmitotic or give that as a reason for the accumulation. No page number is available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measured
In the membranes of outer photoreceptor segments, nonenzymatically formed toxic bisretinoids are converted upon phagocytosis in the acidic environment of RPE phagolysosomes to bisretinoid pyridinium compound A2E and related bisretinoids.
“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]
Section 8 (page unavailable) says that A2PE and related compounds form in photoreceptor outer segments, that RPE cells phagocytose those segments, and that A2PE is hydrolyzed to A2E in the resulting phagolysosomes. Section 6 identifies A2E as a pyridinium compound. The copy does not specify that the phagolysosomes’ acidic environment drives the conversion, or that all the bisretinoids mentioned are converted to A2E. (LLM, conf=0.84)
Experimental — accuracy not yet measured
ABCA4 dysfunction leads to the accumulation of vitamin A derivatives and toxic compounds in photoreceptor outer segments because they cannot be efficiently removed.
“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]
The Conclusions state that loss of ABCA4 transport causes all-trans retinal and N-retinylidene-PE to accumulate in photoreceptor disc membranes, where potentially toxic compounds form. Section 8 distinguishes their location from the subsequent accumulation of A2E and related compounds in retinal pigment epithelial cells, so the claim overstates where the toxic compounds accumulate. (LLM, conf=0.84)
Experimental — accuracy not yet measured
In STGD1, cone degeneration is more severe and occurs before rod degeneration.
“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]
Section 7.1 says cone degeneration is more severe than rod degeneration in ABCA4-related cone-rod dystrophy, which it distinguishes from Stargardt disease. It describes photoreceptor atrophy in Stargardt disease but does not say that cone degeneration is more severe there or occurs before rod degeneration. Page numbers are unavailable in our copy. (LLM, conf=0.82)
Experimental — accuracy not yet measured
A2E is insoluble, tends to aggregate, and accumulates as lipofuscin deposits in RPE cells, compromising RPE function and leading to cell death.
“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]
Section 8 (page not provided) says A2E progressively accumulates as lipofuscin deposits in RPE cells and can lead to loss of RPE function and cell death. The passages do not say that A2E is insoluble or tends to aggregate; searches for those properties found no supporting passage. (LLM, conf=0.86)
Experimental — accuracy not yet measured

ATP-dependent transporters such as ABCA4 or the channel-like property of STRA6 could facilitate retinoid transport.
“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]
Stargardt disease is a human condition in which juvenile macular degeneration is caused by mutations in both alleles of the ABCA4 gene.
“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]
Through outer segment renewal, 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.
“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]
Lipofuscin compromises the function and viability of RPE cells and ultimately results in photoreceptor degeneration and a loss of vision.
“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]
Trapped vitamin A derivatives and toxic compounds can react nonenzymatically to form toxic bisretinoids.
“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]
Upon phagocytosis of outer segments by RPE cells, bisretinal compounds can be hydrolyzed by lysosomal enzymes to the highly toxic metabolite A2E.
“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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Prolonged Recovery of Retinal Structure/Function after Gene Therapy in an Rs1h-Deficient Mouse Model of X-Linked Juvenile Retinoschisis
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Membrane Topology of the ATP Binding Cassette Transporter ABCR and Its Relationship to ABC1 and Related ABCA Transporters
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ATP-binding cassette transporter A1 and cholesterol trafficking
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Characterization of the ABCA Transporter Subfamily: Identification of Prokaryotic and Eukaryotic Members, Phylogeny and Topology
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Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
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Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
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Adeno-Associated Virus-Vectored Gene Therapy for Retinal Disease
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Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
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ATP-binding Cassette Transporter A1 Contains a Novel C-terminal VFVNFA Motif That Is Required for Its Cholesterol Efflux and ApoA-I Binding Activities
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The ABCR Gene: A Major Disease Gene in Macular and Peripheral Retinal Degenerations with Onset from Early Childhood to the Elderly
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Three ATP-binding cassette transporter genes, Abca14 , Abca15 , and Abca16 , form a cluster on mouse Chromosome 7F3
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Authors: Molday, R. S., Zhong, M., & Quazi, F.
Affiliations: University of British Columbia (CA)
Corresponding author: Molday, Robert S.
ORCID: Molday, Robert S.
Zhong, Ming
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)
DOI: 10.1016/j.bbalip.2009.02.004
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

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