Related Experiment Video

Updated: Jan 22, 2026

Delivery of Therapeutic siRNA to the CNS Using Cationic and Anionic Liposomes
10:33

Delivery of Therapeutic siRNA to the CNS Using Cationic and Anionic Liposomes

Published on: July 23, 2016

11.1K

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS

Chloe L Christensen1, Rhea E Ashmead1, Francis Y M Choy2

  • 1Department of Biology, Centre for Biomedical Research, University of Victoria, 3800 Finnerty Rd., Victoria, BC V8P 5C2, Canada.

Diseases (Basel, Switzerland)
|June 29, 2019
PubMed

Insights

Rare mucopolysaccharidoses (MPSs) cause neurodegeneration. This review explores base editing and gene therapy for precise DNA correction and central nervous system delivery, offering potential long-term treatments for these rare genetic diseases.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Rare diseases, including mucopolysaccharidoses (MPSs), collectively have a significant global health impact.
  • MPSs are genetic disorders characterized by cellular glycosaminoglycan accumulation, leading to diverse systemic symptoms, including neurodegeneration in some forms.
  • Current treatment options for MPS with neurological involvement are limited, highlighting the need for novel therapeutic strategies.

Purpose of the Study:

  • To review advances in base editing technologies for precise genetic correction of MPS-causing mutations.
  • To discuss cell and gene therapy delivery methods targeting the central nervous system for severe neurological MPS.
  • To explore potential long-term or curative treatments for rare genetic MPS disorders.

Main Methods:

  • Review of clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing technologies, focusing on base editors.
  • Analysis of putative guide ribonucleic acid (RNA) designs for correcting known causative mutations in 10 MPS types.
  • Examination of current cell and gene therapy delivery techniques, including ultrasound-mediated blood-brain barrier disruption.

Main Results:

  • Base editors represent a highly efficient, on-target deoxyribonucleic acid (DNA) editing tool.
  • Specific guide RNA designs show potential for precision correction of MPS-related mutations.
  • Ultrasound-mediated blood-brain barrier disruption is a promising method for CNS-targeted therapy delivery.

Conclusions:

  • Base editing and gene therapy offer promising avenues for treating rare genetic MPS diseases with neurological impact.
  • Precision correction of causative mutations via advanced genome editing is feasible.
  • Effective delivery of therapies to the central nervous system is critical for managing severe neurological MPS forms.
Keywords:
base editingblood-brain barriercentral nervous systemclustered regularly interspaced short palindromic repeatsgene therapieslysosomal diseasemolecular Trojan horsemucopolysaccharidosistherapeuticultrasound-mediated blood-brain barrier disruption

More Related Videos

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications08:32

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

Published on: August 9, 2022

4.3K
Gene Editing of Primary Rhesus Macaque B Cells09:53

Gene Editing of Primary Rhesus Macaque B Cells

Published on: February 10, 2023

2.9K

Related Concept Videos

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...
27.4K
RNA Editing02:23

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
9.8K
Cardiovascular Drugs: Classification based on Therapeutic Indications01:18

Cardiovascular Drugs: Classification based on Therapeutic Indications

Cardiovascular diseases, encompassing a range of conditions, can significantly affect the heart's operations and the overall circulatory system. These conditions impair the heart's ability to pump blood, leading to a deficit in oxygen supply to crucial organs. Anomalies in the heart's electrical system, known as arrhythmias, can cause heartbeats to accelerate or slow down. Usually, heart rates increase during physical activity and decrease while resting or sleeping. However,...
4.1K
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
16.3K
CNS Depressants: Alcohol and Nicotine01:27

CNS Depressants: Alcohol and Nicotine

Ethanol, a clear colorless alcohol, has been consumed by humans for millennia, but its effects on the body are far from benign. At lower doses, it induces decreased inhibitions and loquaciousness, leading to its social appeal. However, it can cause severe consequences at higher doses, such as coma and respiratory depression, due to its zero-order elimination kinetics. Chronic ethanol abuse wreaks havoc on multiple organ systems, particularly the CNS and the liver. Abrupt cessation of ethanol...
1.1K
CNS Depressants: Barbiturates and Benzodiazepines01:14

CNS Depressants: Barbiturates and Benzodiazepines

CNS depressants include drugs from the category of barbiturates and benzodiazepines. They are valuable medications for managing anxiety disorders and insomnia. Barbiturates, once used to induce and maintain sleep, have been replaced mainly by benzodiazepines due to barbiturate's toxicity, tolerance, and overdose risks. They interact with GABAA receptors, leading to sedation at low doses and potentially coma and death at higher doses. Phenobarbital, a long-acting barbiturate, possesses...
1.2K