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Updated: Aug 12, 2026

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
Published on: October 13, 2023
[The concept of "organellopathies"--component of modern cellular pathology]
1Institut für Pathologische Anatomie Bereichs Medizin, Humboldt-Universität zu Berlin, DDR.
Abstract:
Review is made to an account of contemporary knowledge on cell organelles in an attempt to describe organellopathies known at present together with their relations with diseases and syndromes. Organellopathy is defined as a disease, with its primary effect and/or primary morphological and functional alterations being located in the organelle population of one or several cell types. Mitochondriopathies (mitochondrial disorders), lysosomopathies (lysosomal disease), peroxisomopathies (peroxisomal disorders), ciliopathies (ciliary diseases), and plasma membranopathies (brush border membrane diseases) have so far been most comprehensively characterised and are associated with distinctive clinical pictures. However, unambiguously characterised pathies are almost completely absent with regard to other organelles. With numerous ideas still being of speculative nature, the concept of organellopathies as such may be considered as an element of modern cellular pathology.
Insights
Organellopathies are diseases caused by cellular organelle dysfunction. This review details known organellopathies, including mitochondrial and lysosomal disorders, and their links to human diseases.
Area of Science:
- Cellular Biology
- Pathology
Context:
- Organelles are vital cellular components.
- Dysfunction in organelles leads to various diseases known as organellopathies.
- Understanding organellopathies is crucial for modern cellular pathology.
Purpose:
- To review current knowledge on cell organelles.
- To describe known organellopathies and their association with diseases and syndromes.
- To highlight the significance of organelle dysfunction in disease.
Summary:
- Organellopathy is defined as a disease primarily affecting organelle populations within cells.
- Mitochondriopathies, lysosomopathies, peroxisomopathies, ciliopathies, and plasma membranopathies are well-characterized.
- Research into other organelle-specific diseases is ongoing, with many concepts still speculative.
Impact:
- Provides a comprehensive overview of organellopathies.
- Establishes a framework for understanding organelle-related diseases.
- Contributes to the advancement of cellular pathology and disease diagnosis.
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