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Polycystic Liver Disease (PCLD)

Polycystic liver disease (PCLD) is a genetic condition that manifests in adulthood, presenting challenges due to its diverse genetic mutations and manifestations. Our company specializes in cutting-edge drug and molecular therapy technologies to advance the diagnosis and therapeutics of PCLD. By offering personalized solutions, we aim to address the intricacies of PCLD and contribute to the development of effective therapeutic approaches tailored to the unique needs of each individual.

Introduction to PCLD

Polycystic liver disease (PCLD) also known as isolated polycystic liver disease, is a rare genetic disorder with a low incidence rate of approximately 1 to 9 cases per 100,000 individuals. The pathogenesis of PCLD is intricate, primarily attributed to gene mutations that affect endoplasmic reticulum-associated proteins (Fig.1). These mutations disrupt the function of primary cilia, leading to the continuous growth of cysts within the liver. In advanced stages of PCLD, individuals may experience persistent abdominal pain, bloating, gastroesophageal reflux, and other distressing symptoms.

The mechanisms of hepatic cystogenesis.Fig.1 The mechanisms of hepatic cystogenesis. (Masyuk, T. V., et al., 2022)

Pathogenesis of PCLD

The pathogenesis of PCLD involves a series of intricate mechanisms, primarily influenced by multiple pathogenic genes, including PRKCSH, SEC63, ALG9, and LRP5. These genes play a pivotal role in disrupting glycoprotein folding and translocation, perturbing the Ca2+ pathway, and interfering with the Wnt signal transduction pathway. Notably, the absence of the Wdr35 gene triggers the activation of the TGFβ-SMAD signaling pathway, facilitating the interaction between integrin and the extracellular matrix (ECM), eventually culminating in cyst fission and polycystic liver formation.

Diagnostics Development of PCLD

Molecular diagnostic techniques have emerged as pivotal tools in the precise diagnosis and classification of PCLD. The use of gene linkage analysis, single-strand conformation polymorphism analysis, RNase protection assay, fluorescein in situ hybridization, and Next-generation sequencing (NGS) can elucidate the genetic basis of PCLD. The utilization of molecular diagnostic methodologies underscores the importance of precision therapeutics in addressing the complexity and heterogeneity of PCLD.

Therapeutics of PCLD

Small Molecule Drugs Therapy

Current therapeutic options for PCLD focus on symptomatic management and disease progression. Somatostatin analogs (such as octreotide, lanreotide, etc.), mTOR inhibitors (everolimus), biguanide drugs (metformin), and endoplasmic reticulum stress inhibitors (4-phenylbutyric acid) are among the pharmacological therapeutics used to inhibit cyst proliferation and reduce cyst size.

Gene Therapy

Transfection of cholangiocytes with TGR5-shRNA or short-hairpin RNAs targeting SUMOylation enzymes has demonstrated efficacy in reducing cyst growth by modulating intracellular signaling pathways and promoting cellular apoptosis. Molecular therapies that aim to correct abnormal gene expression patterns hold significant promise in halting the progression of PCLD and improving the quality of life for affected individuals.

Our Services

Developing robust animal models and delving deep into molecular pathways can provide valuable insights into the disease mechanisms and pave the way for novel therapeutic strategies. Our company, equipped with expertise in animal model development and molecular mechanism research, is dedicated to advancing the field of PCLD diagnosis and therapeutics through innovative and personalized approaches.

Platforms of PCLD Therapy Development

Animal Models of PCLD

Utilizing animal model is fundamental in the quest to identify key therapeutic targets in a live organism setting. Our company can offer animal models to help researchers to understand the genetic and molecular mechanisms underlying PCLD, as well as to test potential therapeutic strategies for this condition.

Diet-induced Models
Feeding animals with a high-fat or choline-deficient diet can induce obesity and metabolic syndrome, which may contribute to the development of liver cysts.
Optional Models High-fat diet models, Choline-deficient models
Chemical-induced Models
Administration of CCl4 or Injection of D-galactosamine can induce liver injury and fibrosis, leading to cyst formation in some animal models.
Optional Models D-galactosamine, CCL4
Genetically Engineered Models
Animal models of PCLD can be induced through the introduction of specific gene mutations. Mice with mutations in the Pkhd1 gene or the Pkd2 gene have been used to study polycystic liver disease.
Optional Models PCK rats, Pkd2ws25/- mouse, Pkhd1del2/del2 mouse
Optional Species Mice, Rats, Others

Our company is at the forefront of innovation in the field of PCLD diagnosis and therapeutics. We are dedicated to advancing research and technology in this area, offering specialized services including the creation of PCLD animal model construction, pharmacokinetics study, and drug safety evaluation.

We can provide various stages of service according to your needs. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Suwabe, T., et al. "Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county" JHEP reports: innovation in hepatology 2.6 (2020): 100166.
  • Yu, Z., et al. "Molecular Mechanisms of Isolated Polycystic Liver Diseases." Frontiers in genetics 13 (2022): 846877.
  • Waddell, S. H., et al. "A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease." Science translational medicine 15.713 (2023): eabq5930.
  • Masyuk, T. V., et al. "Polycystic Liver Disease: Advances in Understanding and Treatment." Annual review of pathology 17 (2022): 251-269.

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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