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Related Concept Videos

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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...
Gene Therapy00:59

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...
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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...
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Acute intermittent porphyria: vector optimization for gene therapy.

Makiko Yasuda1, Maciej E Domaradzki, Donna Armentano

  • 1Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

The Journal of Gene Medicine
|July 27, 2007
PubMed
Summary

Gene therapy shows promise for acute intermittent porphyria (AIP). The alpha1Me/alpha1ATp vector combination demonstrated the highest hydroxymethylbilane synthase (HMB-synthase) expression in preclinical models, supporting its use for liver-targeted gene therapy.

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Acute intermittent porphyria (AIP) is an inherited disorder impacting hydroxymethylbilane synthase (HMB-synthase) activity.
  • Patients experience severe neurological attacks, necessitating improved preventive therapies beyond current treatments like intravenous hematin.
  • Research focuses on enhancing hepatic HMB-synthase expression for effective AIP management.

Purpose of the Study:

  • To evaluate four distinct liver-specific enhancer and promoter combinations for maximal hepatic HMB-synthase expression.
  • To identify the most effective vector for potential gene therapy in AIP.

Main Methods:

  • Four mammalian expression vectors (HMBS-1, HMBS-2, HMBS-3, HMBS-4) with unique enhancer/promoter combinations were constructed.
  • Vectors were transfected into HepG2 cells and hydrodynamically injected into HMB-synthase deficient mice.
  • Hepatic HMB-synthase expression was assessed 24 hours post-injection.

Main Results:

  • HMBS-1 (alpha1Me/alpha1ATp) exhibited the highest HMB-synthase expression in HepG2 cells (approx. 8-fold increase).
  • HMBS-1 also demonstrated the greatest hepatic HMB-synthase activity in deficient mice (approx. 6-fold increase vs. saline).

Conclusions:

  • The alpha1Me/alpha1ATp combination is a promising candidate for liver-targeted gene therapy in AIP.
  • Further preclinical studies are warranted to assess the efficacy and safety of this gene therapy vector.