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Porphyria Cutanea Tarda (PCT)

Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. With our company's profound expertise in PCT research, we are well-equipped to offer tailored solutions and comprehensive support to facilitate your research process from PCT therapy development to therapy commercialization.

Introduction to Porphyria Cutanea Tarda

Porphyria cutanea tarda (PCT) is a rare and debilitating disease that falls under the category of porphyria, a group of metabolic disorders characterized by abnormalities in the production of heme, a vital component of hemoglobin and various enzymes. Porphyria cutanea tarda specifically affects the skin, resulting in painful and blistering skin lesions that occur in sun-exposed areas. The estimated prevalence of porphyria cutanea tarda is approximately 1 in 10,000 individuals.

Heme biosynthetic pathway associated with porphyria cutanea tarda (PCT).Fig. 1 Heme biosynthetic pathway, porphyrias, and nutrients. (Di Pierro, Elena, and Francesca Granata., 2020)

Pathogenesis of Porphyria Cutanea Tarda

The pathogenesis of porphyria cutanea tarda (PCT) involves a complex interplay of genetic and environmental factors. The primary underlying cause of PCT is the deficiency of an enzyme called uroporphyrinogen decarboxylase (UROD), which plays a crucial role in the heme biosynthetic pathway. Here are several common pathogenesis mechanisms of PCT.

Inherited PCT

Inherited PCT is associated with mutations in the UROD gene, which is responsible for encoding the UROD enzyme. These mutations can be inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the mutation to their offspring.

Acquired PCT

Acquired PCT is more prevalent and typically occurs in individuals with underlying risk factors and triggers. The most common trigger for acquired PCT is chronic exposure to certain environmental factors, such as alcohol, estrogens, and certain medications like chloroquine and sulfonamides.

Hepatic Iron Overload and PCT

Research indicates that individuals with PCT often exhibit elevated liver iron levels. This iron accumulation directly inhibits UROD activity, worsening the enzyme deficiency. Moreover, iron acts as a photosensitizer, heightening skin sensitivity to UV radiation and increasing the likelihood of blistering and skin damage.

Reactive Oxygen Species and PCT

Reactive oxygen species (ROS) play a crucial role in the pathogenesis of PCT. The accumulation of porphyrin metabolites in the liver leads to increased ROS production. ROS, in turn, cause oxidative stress and trigger inflammatory responses, contributing to the skin manifestations observed in PCT individuals.

Strategies of Porphyria Cutanea Tarda Therapy Development

  • Reduce Iron Accumulation
    Porphyria cutanea tarda is often associated with iron overload in the liver. Targeting iron metabolism can help mitigate the adverse effects of iron overload on UROD activity and reduce the production of reactive oxygen species (ROS). Deferasirox is an iron chelator that may reduce hepatic iron levels in individuals with PCT.
  • Reduce ROS Levels
    ROS contributes to the oxidative stress observed in PCT individuals, leading to inflammation and tissue damage. Therapeutic approaches aim to reduce ROS levels and prevent oxidative damage by employing antioxidants and modulating the cellular redox balance.
  • Reduce Porphyrin Accumulation
    Porphyrin accumulation in the liver and skin can be reduced by inhibiting enzymes involved in porphyrin synthesis. Givosiran is an RNA interference therapeutic that effectively reduces porphyrin levels and improves symptoms in individuals with acute hepatic porphyria, including PCT.
  • Enhance Light Protection
    PCT has photosensitivity characteristics. Narrowband ultraviolet B (NB-UVB) phototherapy effectively reduces skin lesions in individuals with PCT. In addition, afamelanotide stimulates the production of melanin, which provides a natural defense against UV radiation.

Our Services

With years of extensive involvement in rare disease research, our company boasts a highly skilled team and vast expertise. We harness state-of-the-art technology to drive the development of innovative diagnostic tools, enabling early detection of porphyria cutanea tarda. We advance therapeutic drug development by establishing animal models and conducting in-depth investigations into the pathogenesis and targets of porphyria cutanea tarda.

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Our Services

Animal Models of Porphyria Cutanea Tarda

Induced Models
Our company specializes in inducing symptoms associated with porphyria cutanea tarda (PCT) in animals. Our scientists have successfully induced PCT-like symptoms in animals using hexachlorobenzene (HCB), 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), and iron overload agents. Furthermore, we exposed animals to UV radiation or chemical sensitizers, which can induce PCT-like skin lesions and porphyrin accumulation.
Genetically Engineered Models
Genetic modification plays a crucial role in creating animal models of PCT. This approach involves altering specific genes involved in heme biosynthesis or related pathways to mimic the genetic defects observed in human PCT. Techniques such as gene knockout, knockdown, or overexpression are employed to disrupt the normal function of these genes in animals.
Optional Models
  • URO-D+/− Model
  • URO-D+/+ Model
  • URO-D+/-/HFE+/- Model
  • URO-D+/+/HFE+/- Model
Optional Species Mice, Rats, Zebrafish, Pigs, Rabbits, Others

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Di Pierro, Elena, and Francesca Granata. "Nutrients and porphyria: an intriguing crosstalk." International Journal of Molecular Sciences 21.10 (2020): 3462.
  • Phillips, John D., et al. "A mouse model of familial porphyria cutanea tarda." Proceedings of the National Academy of Sciences 98.1 (2001): 259-264.

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

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