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Related Concept Videos

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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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Related Experiment Video

Updated: Oct 11, 2025

Consensus Brain-derived Protein, Extraction Protocol for the Study of Human and Murine Brain Proteome Using Both 2D-DIGE and Mini 2DE Immunoblotting
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Altered protein secretion in Batten disease.

Robert J Huber1

  • 1Department of Biology, Trent University, Life & Health Sciences Building, 1600 West Bank Drive, Peterborough, Ontario K9L 0G2, Canada.

Disease Models & Mechanisms
|December 6, 2021
PubMed
Summary
This summary is machine-generated.

Neuronal ceroid lipofuscinoses (NCLs), or Batten disease, involve impaired protein secretion, not just lysosomal defects. This finding offers new avenues for diagnosing and treating these rare neurological disorders.

Keywords:
Dictyostelium discoideumBatten diseaseCerebrospinal fluidModel systemNeuronal ceroid lipofuscinosisSecretionUrine

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are fatal neurodegenerative disorders.
  • Thirteen subtypes exist, each linked to mutations in specific genes, causing progressive symptoms like vision loss, seizures, and cognitive decline.
  • Traditionally viewed as lysosomal storage diseases, emerging evidence suggests altered protein secretion is also crucial.

Purpose of the Study:

  • To review the role of altered protein secretion in NCL pathogenesis.
  • To identify potential biomarkers for diagnosis and prognosis.
  • To explore new therapeutic strategies targeting protein secretion pathways.

Main Methods:

  • Review of existing literature on NCLs, focusing on protein secretion.
  • Analysis of research in model organisms (Dictyostelium discoideum, mice, sheep).
  • Examination of patient-derived cerebrospinal fluid and urine for biomarkers.

Main Results:

  • Seven of 13 NCL-related genes are linked to protein secretion defects.
  • Aberrant protein secretion is observed in both unicellular and multicellular model organisms.
  • Patient-derived samples show potential for diagnostic and prognostic biomarkers related to protein secretion.

Conclusions:

  • Altered protein secretion is a common feature across multiple NCL subtypes.
  • Biomarkers in patient fluids may aid in NCL diagnosis and prognosis.
  • Targeting protein secretion pathways presents a promising therapeutic direction for Batten disease.