|
© 2004 American Academy of Neurology Brief Communications Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuberFrom the Rudolf Magnus Institute of Neuroscience, Departments of Child Neurology (Drs. Jansen and van Nieuwenhuizen) and Pharmacology and Anatomy (Drs. Notenboom and de Graan), University Medical Center Utrecht, and Department of Clinical Genetics (Drs. Nellist, Goedbloed, and Halley), Erasmus Medical Center, Rotterdam, the Netherlands. Address correspondence and reprint requests to Dr. O. van Nieuwenhuizen, Department of Child Neurology, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, the Netherlands; e-mail: o.vannieuwenhuizen{at}wkz.azu.nl In a tuberous sclerosis patient with a mutation in the TSC1 tumor suppressor gene, no second-hit mutation was found in a resected cortical tuber. Tuber giant cells showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6. Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin–tuberin complex, resulting in increased S6 phosphorylation. These data provide an alternative mechanism for tuberogenesis.
Received January 26, 2004. Accepted in final form May 14, 2004. *Drs. Jansen, Notenboom, and Nellist contributed equally to this work. This article has been cited by other articles:
|
||||||||||||||||||||||||||||||||||||
