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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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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,...
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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.
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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Treatment for Lysosomal Storage Disorders.

Jayesh Sheth1, Aadhira Nair1

  • 1Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, India.

Current Pharmaceutical Design
|October 16, 2020
PubMed
Summary

Lysosomal storage disorders are inherited diseases caused by gene defects, leading to molecule buildup in lysosomes. Current treatments manage symptoms but do not offer a cure, though gene therapy shows promise.

Keywords:
BMTERTLysosomal storage disordersLysosomesSRTchaperonesenzymegene therapytransplantation

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Lysosomal storage disorders (LSDs) encompass ~70 inherited diseases.
  • Defects in lysosomal genes cause deficiencies in enzymes, activator proteins, or transmembrane proteins.
  • This leads to the accumulation of biomolecules within lysosomes, impacting multiple organ systems, frequently including the nervous system.

Purpose of the Study:

  • To review current and emerging treatment strategies for lysosomal storage disorders.
  • To elaborate on the mechanisms and ongoing research for various therapeutic approaches.

Main Methods:

  • Review of existing literature on lysosomal storage disorders and their treatments.
  • Detailed description of established and experimental therapeutic modalities.

Main Results:

  • Current treatments like enzyme replacement therapy, bone marrow transplantation, substrate reduction therapy, molecular chaperones, and gene therapy aim to alleviate symptoms or slow disease progression.
  • No current treatment provides a complete cure for lysosomal storage disorders.

Conclusions:

  • Lysosomal storage disorders present complex pathophysiology requiring multifaceted treatment approaches.
  • Ongoing research is crucial for developing more effective therapies, potentially leading to a cure.