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Overview of Cell Death01:30

Overview of Cell Death

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Cell death is an essential process where the body gets rid of old or damaged cells. Cell proliferation and death need to be balanced, as an imbalance between the two may lead to cancer or autoimmune diseases.
Cell death was observed in the early 19th century, but there was no experimental evidence to prove it. In 1842, Carl Vogt first discovered cell death in a metamorphic toad; however, it was not termed ‘cell death.’ Scientists discovered different cell death pathways only in the...
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Caspases01:24

Caspases

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Caspase, a family of cysteine proteases, serve as effectors in apoptosis. The ced3 gene in C.elegans was first identified to be involved in apoptosis. This gene encodes the ced-3 caspase that is similar to the interleukin-1-beta converting enzyme or ICE in mammals. In addition to apoptosis, caspases also function in the inflammatory response. Inflammatory caspases are essential in activating pro-inflammatory cytokines that recruit immune cells and block the replication of pathogens inside...
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Autophagic Cell Death01:18

Autophagic Cell Death

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Christian de Duve discovered “autophagy,” a process in which cellular components are engulfed by membrane-bound organelles called autophagosomes. The autophagosomes then fuse with lysosomes to digest the enclosed contents. Autophagy is generally activated in cells to prevent cell death. However, cell death is triggered when the damage is beyond repair.
Autophagy and Apoptosis
Autophagy can activate apoptosis. In normal conditions, the autophagy activating protein Beclin-1 and...
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Necrosis01:16

Necrosis

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Necrosis is considered as an “accidental” or unexpected form of cell death that ends in cell lysis. The first noticeable mention of “necrosis” was in 1859 when Rudolf Virchow used this term to describe advanced tissue breakdown in his compilation titled “Cell Pathology”.
Morphological Manifestations of Necrosis
Necrotic cells show different types of morphological appearance depending on the type of tissue and infection. In coagulative necrosis, cells become...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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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,...
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Apoptosis01:30

Apoptosis

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Apoptosis is a combination of two Greek words, 'apo' and 'ptosis,' meaning separation and falling off, respectively. Hippocrates used this word to describe gangrene, which was caused due to bandaging of fractured bones. Apoptosis was distinguished from necrosis in 1970 when John Kerr reported observations of morphological changes occurring during apoptosis. During one experiment, he observed that the disruption of blood supply to the liver tissue resulted in a size...
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Related Experiment Video

Updated: Oct 2, 2025

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes
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Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes

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Programmed Cell Death in Cystinosis.

Elizabeth G Ames1, Jess G Thoene1

  • 1Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, Ann Arbor, MI 48109, USA.

Cells
|February 25, 2022
PubMed
Summary
This summary is machine-generated.

Cystinosis, a genetic disorder, involves increased programmed cell death. Treatments like cysteamine can partially reverse this apoptosis, but the exact cellular mechanisms remain unclear.

Keywords:
apoptosiscystinosisprogrammed cell death

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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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Area of Science:

  • Cellular Biology
  • Genetics
  • Biochemistry

Background:

  • Cystinosis is a lethal autosomal recessive genetic disorder known for over a century.
  • While treatments like dialysis, transplantation, and cysteamine improve patient outcomes, the underlying cellular mechanisms driving the disease phenotype are not fully understood.
  • Programmed cell death, particularly apoptosis, is implicated as a key factor in cystinosis.

Purpose of the Study:

  • To review the existing literature on programmed cell death and apoptosis in the context of cystinosis.
  • To explore the proposed cellular mechanisms contributing to increased apoptosis in cystinosis.
  • To understand how cysteamine treatment may influence these apoptotic pathways.

Main Methods:

  • Literature review of studies on "programmed cell death" and "apoptosis" using Pubmed.
  • Analysis of research involving various model systems and affected tissues in cystinosis.
  • Examination of proposed molecular and cellular mechanisms.

Main Results:

  • Numerous studies demonstrate an elevated rate of apoptosis in cystinosis models and affected tissues.
  • Cysteamine treatment has shown a partial reversal of this increased apoptosis.
  • Potential mechanisms involve alterations in protein signaling, autophagy, gene expression, and oxidative stress.

Conclusions:

  • Apoptosis is a significant cellular process involved in the pathology of cystinosis.
  • Cysteamine exhibits a therapeutic effect by partially mitigating apoptosis, though comprehensive understanding requires further investigation.
  • Further research into protein signaling, autophagy, gene regulation, and oxidative stress is crucial for elucidating cystinosis pathogenesis.