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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,...
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...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
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,...
Lysogenic Cycle of Bacteriophages00:43

Lysogenic Cycle of Bacteriophages

In contrast to the lytic cycle, phages infecting bacteria via the lysogenic cycle do not immediately kill their host cell. Instead, they combine their genome with the host genome, allowing the bacteria to replicate the phage DNA along with the bacterial genome. The incorporated copy of the phage genome is called the prophage. Some prophages can re-activate and enter the lytic cycle. This often occurs in response to a perturbation, such as DNA damage, but can also transpire in the absence of...

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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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Pathogenic cascades in lysosomal disease-Why so complex?

S U Walkley1

  • 1Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1410 Pelham Parkway South, Bronx, NY, 10461, USA. walkley@aecom.yu.edu

Journal of Inherited Metabolic Disease
|January 9, 2009
PubMed
Summary

Lysosomal diseases, stemming from metabolic errors, impact over 50 conditions, often affecting the brain. New research suggests these disorders may be states of deficiency, not just storage.

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Area of Science:

  • Cell Biology
  • Genetics
  • Metabolic Disorders

Background:

  • Lysosomal diseases are a group of over 50 genetic metabolic disorders affecting the lysosome.
  • Lysosomes are key organelles within the endosomal/lysosomal system, crucial for cellular waste processing and homeostasis.
  • These systems are interconnected with the ubiquitin-proteosomal and autophagosomal pathways for degradation and recycling.

Purpose of the Study:

  • To explore the pathogenesis of lysosomal diseases.
  • To highlight the vulnerability of neurons in lysosomal disorders.
  • To reframe the understanding of lysosomal diseases beyond simple storage.

Main Methods:

  • Literature review and analysis of existing studies on lysosomal disease mechanisms.
  • Examination of cellular consequences of lysosomal dysfunction, particularly in neurons.
  • Synthesis of current research on endosomal/lysosomal system signaling and salvage pathways.

Main Results:

  • Lysosomal diseases affect over 50 conditions, with over two-thirds impacting the brain and causing neuronal damage.
  • Neurons exhibit particular vulnerability, leading to axonal/dendritic abnormalities and cell death.
  • Emerging evidence suggests lysosomal disorders may represent 'states of deficiency' rather than solely 'storage' conditions.

Conclusions:

  • Lysosomal dysfunction has profound effects on neuronal health and brain function.
  • Interference with signaling and salvage by the endosomal/lysosomal system is critical to disease complexity.
  • Studying lysosomal diseases offers insights into the vital role of the lysosomal system in cellular health.