Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE

The retina, a metabolically active tissue, relies on adequate flavin levels for optimal function. Our previous research demonstrated that ablation of RTBDN, a retina-specific riboflavin binding protein, plays a pivotal role in maintaining flavin levels, leading to progressive retinal degeneration. T...

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Main Authors: Xue Zhao, Mustafa S. Makia, Muna I. Naash, Muayyad R. Al-Ubaidi
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Redox Biology
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Online Access:http://www.sciencedirect.com/science/article/pii/S221323172500285X
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author Xue Zhao
Mustafa S. Makia
Muna I. Naash
Muayyad R. Al-Ubaidi
author_facet Xue Zhao
Mustafa S. Makia
Muna I. Naash
Muayyad R. Al-Ubaidi
author_sort Xue Zhao
collection DOAJ
description The retina, a metabolically active tissue, relies on adequate flavin levels for optimal function. Our previous research demonstrated that ablation of RTBDN, a retina-specific riboflavin binding protein, plays a pivotal role in maintaining flavin levels, leading to progressive retinal degeneration. This raises the fundamental question of how riboflavin deficiency impacts retinal structure and function. We have previously evaluated an adult diet-induced model of riboflavin deficiency and showed that lack of flavins resulted in severe functional and structural deficits in the neural retina and retinal pigment epithelium with increased oxidative stress and metabolic dysregulation. Ariboflavinosis resulting from mutations in riboflavin transporters manifests early in life and is treatable with riboflavin supplementation. To mimic ariboflavinosis, we established an early-onset dietary model. At postnatal day 30, we observed a pronounced retinal phenotype characterized by early decline in cone function and subsequent loss of cone photoreceptors, while rods remained unaffected. Notably, RTBDN exhibited a biphasic response to early ariboflavinosis: initially upregulated, suggesting a protective role in maintaining retinal flavin levels, but decreased as deficiency persisted with subsequent photoreceptor functional decline. Riboflavin supplementation partially ameliorated these phenotypes by restoring retinal flavin and RTBDN levels, resulting in improvements in retinal structure and function. However, some cellular changes in the RPE remained irreversible and cone count was not restored. These findings underscore the critical roles of riboflavin and RTBDN in maintaining retinal and RPE health and highlight the importance of early detection and intervention for optimal therapeutic outcomes.
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spelling doaj-art-434a83fac66c43a59ecb6de3ef08fbad2025-08-24T05:12:37ZengElsevierRedox Biology2213-23172025-09-018510377210.1016/j.redox.2025.103772Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPEXue Zhao0Mustafa S. Makia1Muna I. Naash2Muayyad R. Al-Ubaidi3Department of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USADepartment of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USACorresponding author. Department of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USA.; Department of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USACorresponding author. Department of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USA.; Department of Biomedical Engineering, University of Houston, 3517 Cullen Blvd., Houston, TX, 77204, USAThe retina, a metabolically active tissue, relies on adequate flavin levels for optimal function. Our previous research demonstrated that ablation of RTBDN, a retina-specific riboflavin binding protein, plays a pivotal role in maintaining flavin levels, leading to progressive retinal degeneration. This raises the fundamental question of how riboflavin deficiency impacts retinal structure and function. We have previously evaluated an adult diet-induced model of riboflavin deficiency and showed that lack of flavins resulted in severe functional and structural deficits in the neural retina and retinal pigment epithelium with increased oxidative stress and metabolic dysregulation. Ariboflavinosis resulting from mutations in riboflavin transporters manifests early in life and is treatable with riboflavin supplementation. To mimic ariboflavinosis, we established an early-onset dietary model. At postnatal day 30, we observed a pronounced retinal phenotype characterized by early decline in cone function and subsequent loss of cone photoreceptors, while rods remained unaffected. Notably, RTBDN exhibited a biphasic response to early ariboflavinosis: initially upregulated, suggesting a protective role in maintaining retinal flavin levels, but decreased as deficiency persisted with subsequent photoreceptor functional decline. Riboflavin supplementation partially ameliorated these phenotypes by restoring retinal flavin and RTBDN levels, resulting in improvements in retinal structure and function. However, some cellular changes in the RPE remained irreversible and cone count was not restored. These findings underscore the critical roles of riboflavin and RTBDN in maintaining retinal and RPE health and highlight the importance of early detection and intervention for optimal therapeutic outcomes.http://www.sciencedirect.com/science/article/pii/S221323172500285XRiboflavinRetbindinAriboflavinosisRetinal degenerationRPE dystrophy
spellingShingle Xue Zhao
Mustafa S. Makia
Muna I. Naash
Muayyad R. Al-Ubaidi
Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
Redox Biology
Riboflavin
Retbindin
Ariboflavinosis
Retinal degeneration
RPE dystrophy
title Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
title_full Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
title_fullStr Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
title_full_unstemmed Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
title_short Developmental riboflavin deficiency results in structural and functional changes in the neural retina and RPE
title_sort developmental riboflavin deficiency results in structural and functional changes in the neural retina and rpe
topic Riboflavin
Retbindin
Ariboflavinosis
Retinal degeneration
RPE dystrophy
url http://www.sciencedirect.com/science/article/pii/S221323172500285X
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