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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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...
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...
Lysosomes01:31

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
Lysosomes01:31

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Gene therapy for lysosomal storage disorders.

Angela Gritti1

  • 1San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Scientific Institute, Via Olgettina 58, 20132, Milano, Italy. gritti.angela@hsr.it

Expert Opinion on Biological Therapy
|May 10, 2011
PubMed
Summary

Gene therapy offers a promising treatment for lysosomal storage disorders (LSDs) affecting the central nervous system (CNS). Key challenges include developing safe viral vectors and improving cell transplantation techniques for effective treatment.

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Area of Science:

  • Neurology
  • Genetics
  • Biotechnology

Background:

  • Lysosomal storage disorders (LSDs) comprise over 50 diseases stemming from lysosomal dysfunction.
  • Approximately 70% of LSDs are characterized by neurodegeneration or dysmyelination.
  • Gene therapy is a potential treatment for CNS manifestations in LSDs, aiming for sustained enzyme replacement.

Purpose of the Study:

  • To review progress and challenges in gene therapy for CNS manifestations of LSDs.
  • To discuss intracerebral gene delivery and neural stem/progenitor cell transplantation strategies.
  • To highlight critical aspects for developing effective gene therapy approaches.

Main Methods:

  • Extensive literature search conducted up to March 2011.
  • Review and discussion of existing gene therapy strategies for LSDs targeting the CNS.
  • Focus on direct intracerebral gene delivery and cell transplantation methods.

Main Results:

  • Gene therapy holds potential for permanent enzyme replacement in the CNS.
  • Exploitation of neural stem/progenitor cells and hematopoietic cells is a key strategy.
  • Progress has been made in developing gene therapy for LSDs, but significant challenges remain.

Conclusions:

  • Developing viral vectors with specific tropism, regulated expression, and low risks is crucial.
  • Improving the isolation and manipulation of cells for transplantation is essential.
  • Combinatorial strategies may be necessary for complete correction in neurological LSDs.