Department of Medical Oncology, Dana Farber Cancer Institute, Harvard Medical School, 02115 Boston, MA, USA; Metabolomics Platform, Spanish Biomedical Research Center in Diabetes and Associated Metabolic Disorders, Rovira i Virgili University, 43007 Tarragona, Spain.
Med Hypotheses. 2013 Dec;81(6):1127-9. doi: 10.1016/j.mehy.2013.10.018. Epub 2013 Oct 21.
Wilson disease (WD) is an autosomal recessive inherited disorder of copper (Cu) metabolism, resulting in pathological accumulation of Cu in many organs and tissues, predominantly in the liver and brain. There clearly is a close and complex relationship between Cu and the cholesterol's metabolic pathway; therefore any theory about the cholesterol metabolism in the brain of patients with WD must take it into account. The hypothesis presented in this paper is that the imbalance in cerebral copper homeostasis caused by WD may plays a key role in the derangement of the cholesterol homeostasis in the brain, and thus promoting the observed WD related neurological disorders.
威尔逊病（WD）是一种常染色体隐性遗传性铜代谢紊乱疾病，导致铜在许多器官和组织中病理性蓄积，主要在肝脏和大脑。铜和胆固醇代谢途径之间显然存在密切而复杂的关系；因此，任何关于 WD 患者大脑中胆固醇代谢的理论都必须考虑到这一点。本文提出的假设是，WD 引起的大脑铜动态平衡失衡可能在大脑中胆固醇动态平衡紊乱中起关键作用，并因此促进了观察到的 WD 相关神经障碍。
