Activating Mutation of GS[alpha] in McCune-Albright Syndrome Causes Skin Pigmentation by Tyrosinase Gene Activation on Affected Melanocytes

• Published in: Hormone research in paediatrics Vol. 52; no. 5; p. 235
• Main Authors: Kim, Il-soo, Kim, Eun Ryoung, Nam, Hye Jung, Chin, Mi Ok, Moon, Young Ho, Oh, Myung Ryurl, Yeo, Un Cheol, Song, Seng Mi, Kim, Jung Sim, Uhm, Mee Ryung, Beck, Nam Seon, Jin, Dong Kyu
• Format: Journal Article
• Language: English
• Published: Basel S. Karger AG 01.11.1999
• ISSN: 1663-2818; 1663-2826
• DOI: 10.1159/000023467

McCune-Albright syndrome (MAS) is a sporadic disease characterized by café-au-lait spots, polyostotic fibrous dysplasia and hyperfunctional endocrinopathies. To elucidate the mechanism of skin pigmentation, melanocytes, keratinocytes and fibroblasts were primary cultured from the café-au-lait spot of a MAS patient. Then, mutational analysis and morphologic evaluation were performed. Also, cAMP level and tyrosinase gene expression in cultured cells were determined. Only Gsα mutation was found in affected melanocytes and the cAMP level in affected melanocytes was higher than that of normal melanocytes. The mRNA expression of tyrosinase gene was increased in the affected melanocytes. This study suggests that skin pigmentation of MAS results from activating mutation of Gsα in melanocytes and the mechanism involves the c-AMP-mediated tyrosinase gene activation. Copyright © 2000 S. Karger AG, Basel [PUBLICATION ABSTRACT]