Related Experiment Video

Updated: Sep 26, 2026

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine
09:54

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

Intravenous gene therapy for familial hypercholesterolemia using ligand-facilitated transfer of a liposome:LDL

M Shichiri1, A Tanaka, Y Hirata

  • 1Department of Clinical and Molecular Endocrinology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan.

Gene Therapy
|April 22, 2003
PubMed

Insights

Familial hypercholesterolemia (FH) treatment shows promise with a novel gene therapy. Transferrin-facilitated liposomal delivery of LDLR cDNA reduced cholesterol in FH rabbits, offering a potential new therapeutic avenue.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Disease

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder caused by LDLR gene mutations.
  • Standard cholesterol-lowering treatments are often ineffective for FH patients.
  • FH significantly increases the risk of coronary artery disease.

Purpose of the Study:

  • To evaluate the efficacy of transferrin-facilitated intravenous gene therapy in an animal model of FH.
  • To investigate the impact of LDLR gene delivery on plasma cholesterol levels.
  • To assess the correlation between gene delivery and LDLR mRNA expression.

Main Methods:

  • Utilized Watanabe Heritable Hyperlipidemic Rabbits (WHHL), an animal model for FH.
  • Administered cationic liposome complexes containing rabbit LDLR cDNA via intravenous transfer.
  • Facilitated gene delivery using transferrin.
  • Measured plasma total and LDL cholesterol levels.
  • Quantified LDLR mRNA transcripts in leukocytes.

Main Results:

  • Intravenous treatment dose-dependently decreased plasma total and LDL cholesterol levels.
  • Observed a positive correlation between treatment and increased LDLR mRNA transcripts in leukocytes.
  • Demonstrated successful alleviation of hypercholesterolemia in WHHL rabbits.

Conclusions:

  • Transferrin-facilitated intravenous gene delivery of LDLR cDNA is effective in reducing hypercholesterolemia.
  • This approach shows potential as an adjunctive therapy for Familial hypercholesterolemia.
  • Further research may lead to novel treatment strategies for FH.

More Related Videos

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells11:16

Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells

Published on: February 15, 2019

Related Concept Videos

Gene Therapy01:22

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Receptor-mediated Endocytosis01:48

Receptor-mediated Endocytosis

Receptor-mediated endocytosis is a process through which bulk amounts of specific molecules can be imported into a cell after binding to cell surface receptors. The molecules bound to these receptors are taken into the cell through inward folding of the cell surface membrane, which is eventually pinched off into a vesicle within the cell. Structural proteins, such as clathrin, coat the budding vesicle and give it its round form.Clathrin-Mediated Endocytosis of LDLOne well-characterized example...
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...