Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes

Hata, Masayuki; Ikeda, Hanako O.; Iwai, Sachiko; Iida, Yuto; Gotoh, Norimoto; Asaka, Isao; Ikeda, Kazutaka; Isobe, Yosuke; Hori, Aya; Nakagawa, Saori; Yamato, Susumu; Arita, Makoto; Yoshimura, Nagahisa; Tsujikawa, Akitaka

doi:10.1073/pnas.1717338115

Cited by 70Lysosomal Storage Disorders ResearchRetinal Development and DisordersAutophagy in Disease and Therapy

Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes

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Hata, Masayuki, Ikeda, Hanako O., Iwai, Sachiko, Iida, Yuto, Gotoh, Norimoto, Asaka, Isao, Ikeda, Kazutaka, Isobe, Yosuke +6 more·2018·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1717338115PMC PMC5899444

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Abstract

mutation and successfully established an in vitro model of BCD, i.e., BCD patient-specific iPSC-RPE cells. In this model, RPE cells showed degenerative changes of vacuolated cytoplasm similar to those in postmortem specimens from patients with BCD. BCD iPSC-RPE cells exhibited lysosomal dysfunction and impairment of autophagy flux, followed by cell death. Lipidomic analyses revealed the accumulation of glucosylceramide and free cholesterol in BCD-affected cells. Notably, we found that reducing free cholesterol by cyclodextrins or δ-tocopherol in RPE cells rescued BCD phenotypes, whereas glucosylceramide reduction did not affect the BCD phenotype. Our data provide evidence that reducing intracellular free cholesterol may have therapeutic efficacy in patients with BCD.

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Impaired autophagy in these diseases is accompanied by defects in other organelles/functions such as delayed phagosome maturation, lysosomal dysfunction, and endosomal abnormalities.
“Impaired autophagy is accompanied by defects in other organelles/functions such as delayed phagosome maturation (Bietti’s, Batten, SLO (Wavre-Shapton et al., 2015; Hata et al., 2018; Ramachandra Rao et al., 2018)), lysosomal dysfunction (Stargardt, Batten, Bietti’s (Liu et al., 2008; Wavre-Shapton et al., 2015; Tan et al., 2016; Hata et al., 2018)), and endosomal abnormalities (Stargardt (Kaur et”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Hata et al., 2018
In Batten, Bietti's, and SLO diseases, autophagic defects manifest as an accumulation of LC3-positive autophagosomes and increased p62, suggestive of a block in autophagosome-lysosome fusion.
“In Abca4−/− RPE, both autophagosome biogenesis and autophagic flux are inhibited (Toops et al., 2015); however, in Batten, Bietti’s, and SLO diseases, autophagic defects manifest as an accumulation of LC3-positive autophagosomes and increased p62, suggestive of a block in autophagosome-lysosome fusion.”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Hata et al., 2018
Autophagic abnormalities in the RPE have been documented in several rodent and iPS-RPE models of inherited retinal degenerations, including Abca4−/− Stargardt disease, Cln3Δex1−6 Batten disease, iPS-RPE Bietti's crystalline dystrophy, and Smith-Lemli-Opitz syndrome.
“Autophagic abnormalities in the RPE have also been documented in several rodent and iPS-RPE models of inherited retinal degenerations. These include the pigmented Abca4−/− mouse model of Stargardt disease (Toops et al., 2015), the Cln3Δex1−6 mouse model of Batten disease or juvenile neuronal ceroid lipofuscinosis (Wavre-Shapton et al., 2015), and iPS-RPE models of Bietti’s crystalline dystrophy (H”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Hata et al., 2018

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Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway
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Authors: Hata, M., Ikeda, H. O., Iwai, S., Iida, Y., Gotoh, N., Asaka, I., Ikeda, K., Isobe, Y., Hori, A., Nakagawa, S., Yamato, S., Arita, M., Yoshimura, N., & Tsujikawa, A.
Affiliations: Kyoto University (JP)
RIKEN Center for Integrative Medical Sciences (JP)
Niigata University of Pharmacy and Medical and Life Sciences (JP)
Keio University (JP)
Corresponding author: Ikeda, Hanako O.
ORCID: Hata, Masayuki
Ikeda, Hanako O.
Iida, Yuto
Ikeda, Kazutaka
Isobe, Yosuke
Nakagawa, Saori
Arita, Makoto
Yoshimura, Nagahisa
Tsujikawa, Akitaka
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2018-03-26
Volume: 115
Issue: 15
Pages: 3936-3941
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1717338115
PMC: PMC5899444
OpenAlex: W2789976847
Cited by: 70
References: 56
Citations by year: 2026: 6 · 2025: 10 · 2024: 10 · 2023: 6 · 2022: 15 · 2021: 10 · 2020: 8 · 2019: 5
FWCI: 3.95
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-nd
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
Locations: Proceedings of the National Academy of Sciences (publishedVersion, cc-by-nc-nd)
Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
PubMed Central (publishedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
Institutional Repositories DataBase (IRDB) (submittedVersion, cc-by-nc-nd)
Kyoto University Research Information Repository (Kyoto University) (submittedVersion, cc-by-nc-nd)
Funders: Japan Agency for Medical Research and Development (15652070)
Ono Medical Research Foundation
Novartis Pharma
Japan Society for the Promotion of Science (16K20316, 15H04648, 16K11285, 18K19610, 15H05898, 17K16967, 18K16923, 15K20255, JP15H05897, 15H05897)
Topics: Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Keywords: retinal pigment epithelium, free cholesterol, glucosylceramide, lysosomal dysfunction, autophagic flux, cyclodextrins, delta-tocopherol, lipid accumulation, disease modeling, cell death
MeSH terms: Cytochrome P450 Family 4, Animals, Cholesterol, Corneal Dystrophies, Hereditary, Humans, Mutation, Phenotype, Retinal Diseases, Mice, Retinal Pigment Epithelium

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Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes

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