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UV-Sensitive Syndrome (UVSS)

UV-sensitive syndrome (UVSS) is an infrequent condition marked by extreme reactions to ultraviolet light exposure, chiefly skin damage like sunburns and photoaging. Protheragen offers complete preclinical therapeutic and pharmaceutical development services that aid in translational research concerning UV-sensitive syndrome.

Introduction to UV-Sensitive Syndrome

UV-Sensitive Syndrome (UVSS) is a rare genetic disorder with a global incidence of approximately 1 in 500,000 individuals affected. The condition poses significant risks due to its association with severe sunburns, premature photoaging, and an increased likelihood of skin cancers. Furthermore, these individuals bear a striking resemblance to those afflicted with xeroderma pigmentosum because both conditions share common underlying cellular defects that hinder proper DNA repair.

Pathogenesis of UV-Sensitive Syndrome

Ultraviolet-sensitive syndrome results from biallelic alterations of the ERCC8, ERCC6 and UVSSA genes which are responsible for excision repair of UV-induced cyclobutane pyrimidine dimers (CPDs) leading to impaired nucleotide excision repair (NER). Defective NER causes persistent DNA damage that leads to apoptosis within keratinocytes, chronic inflammation, and genomic instability. Augmented oxidative stress contributes to further mitochondrial dysfunction as well as degradation of the extracellular matrix resulting in accelerated photoaging and increased vulnerability towards squamous cell carcinoma.

Differential processing of RNA polymerase II at DNA damage correlates with the severity of transcription-coupled repair syndromes.

Fig.1 Differential processing of RNA polymerase II at DNA damage correlates with transcription-coupled repair syndrome severity. (Gonzalo-Hansen et al., 2024)

Therapeutics Development for UV-Sensitive Syndrome

Drug Name	Therapeutic Target	Key Findings/Mechanism	Development Stage
NSAIDs	COX enzymes/ROS generation	Triggers phototoxic dermatitis through oxidative stress	Approved
Retinoids	Nuclear RAR/RXR receptors	Disrupts epidermal barrier function	Approved
JAK inhibitors	JAK-STAT pathway	Blocks IFN-γ signaling in UV-induced inflammation	Phase III
UV-stable delivery systems	Drug-carrier complex stabilization	Liposomal/nanoparticle encapsulation reduces systemic phototoxicity	Preclinical to Phase I
NB-UVB adjunct therapies	Keratinocyte differentiation pathways	Combined anti-inflammatory/keratolytic action enhances phototolerance	Repurposed from psoriasis

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

Protheragen focuses on offering complete preclinical services pertaining to UV-Sensitive Syndrome via therapeutic development and disease models. Our platforms accelerate drug discovery along with optimizing diagnostics through focused molecular strategies.

Therapeutics Development Platforms for UV-Sensitive Syndrome

Disease Model Development for UV-Sensitive Syndrome

Protheragen engineers UVSS-specific 2D cell models, 3D skin models, and animal models. These systems replicate DNA repair defects, UV-induced apoptosis, and chronic photoaging, enabling mechanistic studies and high-throughput drug screening for this rare disorder.

2D Cell Models & 3D Skin Models

ERCC6/ERCC8-Knockout Human Keratinocytes
Patient-Derived iPSC Models with UVSSA Mutations
3D Full-Thickness Skin Equivalents

Animal Models Development

Ercc6 Knockout Mice
Zebrafish uvssa Mutants
Tissue-Specific DNA Repair-Deficient Rat Models

Drug Safety Evaluation and DMPK Services

Protheragen offers comprehensive drug safety evaluation and DMPK services, designed to accelerate the preclinical development of novel therapies for UV-Sensitive Syndrome. We are dedicated to providing robust data to support the efficacy and safety of your innovative drug candidates.

In Vitro ADME Services

Metabolic Stability Assa
CYP Inhibition Screening
Plasma Protein Binding
Caco-2 Permeability
Hepatocyte Clearance

In Vivo Pharmacokinetics Services

Oral Bioavailability
Tissue Distribution
Excretion Balance
Metabolite Profiling
Skin Penetration Study

Drug Safety Evaluation

General Toxicology Evaluation
Genetic Toxicology Evaluation
Developmental and Reproductive Toxicity Evaluation
Immunogenicity and Immunotoxicity Evaluation

As your preclinical research partner, Protheragen pioneers therapies for UV-Sensitive Syndrome and related photodermatoses. We deliver end-to-end solutions including DNA repair gene target validation, disease modeling, drug safety evaluation and DMPK services.

Contact us to explore how our end-to-end solutions can advance your UV-Sensitive Syndrome research.

References

Bahap, Y., and G. Kayhan. "A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating Uvssa Variant: Might This Be a New Cause?" Mol Syndromol 15.4 (2024): 324-27.
Gonzalo-Hansen, C., et al. "Differential Processing of Rna Polymerase Ii at DNA Damage Correlates with Transcription-Coupled Repair Syndrome Severity." Nucleic Acids Res 52.16 (2024): 9596-612.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.