Café-au-lait patches and senile plaques: How APPt the connection?
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.
Diwakar
Ganesh
G
Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.
Hornyak
Thomas J
TJ
D019080:Cafe-au-Lait Spots / Q000209:etiology*; D006801:Humans; D008544:Melanocytes / Q000737:chemistry*; D020460:Melanosomes / Q000737:chemistry*; D025542:Neurofibromin 1 / Q000032:analysis* / Q000378:metabolism; D058225:Plaque, Amyloid / Q000473:pathology*; D000685:Serum Amyloid A Protein / Q000032:analysis* / Q000378:metabolism
D025542:Neurofibromin 1; D000685:Serum Amyloid A Protein