Proteinopathy

Proteinopathy refers to a broad range of diseases that are caused by proteins that become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body. Proteinopathies include Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic lateral sclerosis, and Prion diseases.

Overview

Proteinopathies are caused by certain proteins that fail to fold into their normal configuration. In this misfolded state, the proteins can become toxic and can aggregate into insoluble protein aggregates that contribute to the disease process. This is a common mechanism in neurodegenerative diseases, systemic diseases, and many other conditions.

Types of Proteinopathies

There are several types of proteinopathies, which are classified based on the protein involved and the disease it causes. These include:

• Amyloidosis: This is a group of diseases in which abnormal proteins, known as amyloids, build up in tissues and organs.
• Tauopathies: These are a class of neurodegenerative diseases associated with the pathological aggregation of tau protein in the human brain.
• Synucleinopathies: These are neurodegenerative diseases characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells.

Treatment

Treatment for proteinopathies is largely symptomatic, focusing on improving quality of life and slowing disease progression. However, research is ongoing to find treatments that can target the underlying protein misfolding and aggregation.

See Also

• Neurodegenerative disease
• Protein folding
• Protein aggregation

References

Proteinopathy Resources
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