Abstract
Copper and iron are transition elements essential for life. These metals are required to maintain the brain's biochemistry such that deficiency or excess of either copper or iron results in central nervous system disease. This review focuses on the inherited disorders in humans that directly affect copper or iron homeostasis in the brain. Elucidation of the molecular genetic basis of these rare disorders has provided insight into the mechanisms of copper and iron acquisition, trafficking, storage, and excretion in the brain. This knowledge permits a greater understanding of copper and iron roles in neurobiology and neurologic disease and may allow for the development of therapeutic approaches where aberrant metal homeostasis is implicated in disease pathogenesis.
Publication types
- Research Support, N.I.H., Extramural
- Review
MeSH terms
- Animals
- Brain / metabolism*
- Brain / physiopathology
- Brain Diseases, Metabolic / genetics
- Brain Diseases, Metabolic / metabolism*
- Brain Diseases, Metabolic / physiopathology
- Copper / metabolism*
- Friedreich Ataxia / genetics
- Friedreich Ataxia / metabolism
- Friedreich Ataxia / physiopathology
- Genetic Predisposition to Disease / genetics*
- Hepatolenticular Degeneration / genetics
- Hepatolenticular Degeneration / metabolism
- Hepatolenticular Degeneration / physiopathology
- Homeostasis / genetics
- Humans
- Iron / metabolism*
- Iron Metabolism Disorders / genetics
- Iron Metabolism Disorders / metabolism*
- Iron Metabolism Disorders / physiopathology
- Menkes Kinky Hair Syndrome / genetics
- Menkes Kinky Hair Syndrome / metabolism
- Menkes Kinky Hair Syndrome / physiopathology