A protein folding disorder, also known as a proteopathy or proteinopathy, refers to a category of diseases where specific proteins within the body adopt an incorrect structure, leading to cellular and organ dysfunction.
Based on the provided reference, a protein folding disorder, also referred to as a proteopathy, protein conformational disorder, or protein misfolding disease, is defined as:
"a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body".
Understanding the Concept
Normally, proteins fold into very specific 3D shapes to carry out their biological functions. This precise shape is crucial for them to interact correctly with other molecules and perform their tasks.
In protein folding disorders, this critical process goes wrong. Certain proteins fail to fold into their correct structure or become misfolded. This structural abnormality prevents the proteins from functioning properly.
Consequences of Misfolding
When proteins are structurally abnormal due to misfolding, they can cause problems in several ways:
- They may lose their original function.
- They can become toxic to cells.
- They might aggregate or clump together, forming deposits that damage cells and tissues.
This disruption in protein function and accumulation ultimately harms the cells, tissues, and organs of the body, leading to the symptoms and progression characteristic of these diseases.
Alternative Names
Protein folding disorders are known by several related terms, highlighting the nature of the problem:
- Protein Misfolding Disease: Emphasizes the incorrect folding process.
- Protein Conformational Disorder: Focuses on the abnormal 3D shape (conformation) of the protein.
- Proteopathy / Proteinopathy: Broader terms referring to diseases involving abnormal proteins.
| Common Term | Related Terms |
|---|---|
| Protein Folding Disorder | Protein Misfolding Disease, Protein Conformational Disorder |
| Proteopathy | Proteinopathy (includes plural "proteinopathies" and adjective "proteinopathic") |
Understanding protein folding disorders is key to researching their causes and developing potential treatments aimed at preventing misfolding, clearing misfolded proteins, or mitigating their harmful effects.
