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Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1)

✍ Scribed by Dieter Kaufmann; Suzanne Wiandt; Joseph Veser; Winfrid Krone

Book ID
104662659
Publisher
Springer
Year
1991
Tongue
English
Weight
683 KB
Volume
87
Category
Article
ISSN
0340-6717

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✦ Synopsis

Melanocyte cultures from the normally pigmented skin of patients with neurofibromatosis 1 (NF 1) have a higher melanin content than those from the skin of healthy donors. An additional increase in the amount of melanin per cell was found in 5 out of 6 lines of melanocytes derived from caf6 au lait macules of NF 1 patients. Omission of the tumor promoter phorbol-12myristate-13-acetate from the culture medium brings about a comparable increase in the melanin content in all three kinds of melanocyte cultures. Cultures of NF 1 melanocytes show a higher tyrosine hydroxylase activity than those of control melanocytes, and incorporate larger amounts of dihydroxyphenylalanine than the latter. We conclude that melanogenesis in epidermis melanocytes is affected by defective alleles of the NF 1 gene. Our findings do not contradict the hypothesis that the defect underlying NF 1 impairs the inhibition of a wild-type RAS oncogene by interfering with the GTPaseactivating function of the NF 1 gene product.

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