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Lysosomal Hydrolases01:22

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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,...
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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Genome editing in lysosomal disorders.

Luisa Natalia Pimentel-Vera1, Edina Poletto1, Esteban Alberto Gonzalez1

  • 1Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil; Gene Therapy Center, HCPA, Porto Alegre, Brazil.

Progress in Molecular Biology and Translational Science
|June 27, 2021
PubMed
Summary
This summary is machine-generated.

Genome editing offers new ways to study and treat rare lysosomal disorders by creating specific cell and animal models. This powerful technology holds promise for advancing gene therapy protocols for these challenging genetic conditions.

Keywords:
CRISPR-Cas9Genome editingLysosomal disorders (LDs)TALENsZinc-finger nucleases

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Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Lysosomal disorders are rare genetic conditions caused by mutations in lysosomal protein genes.
  • Many lysosomal disorders lack detailed understanding of disease mechanisms and effective therapeutic strategies.
  • There is a critical need for advanced tools to investigate and treat these diseases.

Purpose of the Study:

  • To review the applications of genome editing technologies in the study and treatment of lysosomal disorders.
  • To highlight the potential of genome editing for creating relevant disease models.
  • To discuss the prospects of genome editing in developing novel gene therapies for lysosomal diseases.

Main Methods:

  • Literature review of studies utilizing genome editing for lysosomal disorders.
  • Analysis of genome editing applications in creating cell lines and animal models.
  • Examination of gene therapy strategies enabled by genome editing.

Main Results:

  • Genome editing enables precise modification of genes associated with lysosomal disorders.
  • It facilitates the generation of accurate cellular and animal models for pathogenesis research.
  • Applications include the development of gene correction and gene replacement strategies.

Conclusions:

  • Genome editing is a transformative technology for understanding lysosomal disorders.
  • It provides unprecedented opportunities for developing targeted gene therapies.
  • Rewriting the genome is crucial for advancing research and treatment of these rare diseases.