PCYT1A Hypophosphorylation Underlies Retinal Lipid Dysregulation in CERKL Retinitis Pigmentosa and Is Therapeutically Reversed by Phosphatidylcholine

Pan Gao; P Li; Yayun Qin; Hualei Hu; James Reilly; Yiyang Fu; Qineng Wang; Mengmeng Ren; Jiong Luo; Yuejie Zhu; Liyan Dai; Xinhua Shu; Xiang Ren; Fei Liu; M H Liu; Chengqi Xu; Zhaohui Tang

doi:10.1167/iovs.67.4.54

April 23, 2026Investigative Ophthalmology & Visual ScienceOpen Access

PCYT1A Hypophosphorylation Underlies Retinal Lipid Dysregulation in CERKL Retinitis Pigmentosa and Is Therapeutically Reversed by Phosphatidylcholine

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Key Points

The study aims to explore the role of PCYT1A hypophosphorylation in retinal lipid dysregulation in CERKL-deficient retinitis pigmentosa.
Established dysregulated PC metabolism due to PCYT1A hypophosphorylation as a pathogenic factor.
Identified PC supplementation as a metabolic therapy.
Used a genetic framework of CERKL-deficiency to evaluate impacts.
Documented that hypophosphorylation of PCYT1A leads to lipid dysregulation in retinal cells.
Demonstrated that phosphatidylcholine supplementation reverses metabolic deficits.
Indicates potential for PC supplementation as a treatment for CERKL-related retinal degeneration.

Implication

Shows PC supplementation improves lipid balance in CERKL-deficient retinitis pigmentosa, suggesting a metabolic intervention.

Abstract

Our work establishes dysregulated PC metabolism due to PCYT1A hypophosphorylation as a pathogenic driver in CERKL-deficient RP. We identify PC supplementation as a readily translatable, metabolic therapy for this genetically defined form of retinal degeneration.

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Cite This Study

Gao et al. (2026) studied this question.

synapsesocial.com/papers/69ec5b3d88ba6daa22dacd73 https://doi.org/10.1167/iovs.67.4.54

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PCYT1A Hypophosphorylation Underlies Retinal Lipid Dysregulation in CERKL Retinitis Pigmentosa and Is Therapeutically Reversed by Phosphatidylcholine

Key Points

Implication

Abstract

Discussion

Cite This Study

PCYT1A Hypophosphorylation Underlies Retinal Lipid Dysregulation in CERKL Retinitis Pigmentosa and Is Therapeutically Reversed by Phosphatidylcholine

Key Points

Implication

Abstract

Discussion

Cite This Study

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