咖啡牛奶斑和老年斑：APP与它们有怎样的联系？

Café-au-lait patches and senile plaques: How APPt the connection?

作者信息

Diwakar Ganesh, Hornyak Thomas J

机构信息

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.

出版信息

J Invest Dermatol. 2006 Mar;126(3):547-50. doi: 10.1038/sj.jid.5700165.

DOI:10.1038/sj.jid.5700165

PMID:16482197

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disease caused by mutations in the NF1 gene, which encodes the protein neurofibromin. Patients exhibit characteristic hyperpigmented patches called café-au-lait patches. Melanocytes of NF1 patients differ from normal human melanocytes, but no differences account completely for lesional hyperpigmentation. An association between beta-amyloid precursor protein (APP) and neurofibromin, and their localization to the melanosome, may help explain the development of café-au-lait patches.

摘要

1型神经纤维瘤病（NF1）是一种由NF1基因突变引起的遗传性疾病，该基因编码神经纤维瘤蛋白。患者会出现特征性的色素沉着斑，称为牛奶咖啡斑。NF1患者的黑素细胞与正常人类黑素细胞不同，但没有差异能完全解释皮损色素沉着过度的原因。β-淀粉样前体蛋白（APP）与神经纤维瘤蛋白之间的关联及其在黑素小体中的定位，可能有助于解释牛奶咖啡斑的形成。