Madsen Erik, Gitlin Jonathan D
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63130, USA.
Annu Rev Neurosci. 2007;30:317-37. doi: 10.1146/annurev.neuro.30.051606.094232.
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.
铜和铁是生命所必需的过渡元素。这些金属对于维持大脑的生物化学过程至关重要，以至于铜或铁的缺乏或过量都会导致中枢神经系统疾病。本综述聚焦于直接影响大脑中铜或铁稳态的人类遗传性疾病。对这些罕见疾病分子遗传基础的阐明，为深入了解大脑中铜和铁的摄取、运输、储存及排泄机制提供了线索。这些知识有助于更深入地理解铜和铁在神经生物学及神经疾病中的作用，并可能推动针对疾病发病机制涉及异常金属稳态的治疗方法的开发。
