Team Of Max Planck Scientists Elucidates Structure Of A Protein Segment Involved In 'Von Recklinghausen Neurofibromatosis'

Scientists at the Max Planck Institute for Molecular Physiology in Dortmund and of the Max Planck Institute for Medical Research in Heidelberg (Germany) have determined the first structure of a functional protein unit that is involved in the development of ‘von Recklinghausen neurofibromatosis’. This unit is a regulator of another protein involved in the pathogenesis of numerous tumors, linking neurofibromatosis to tumor development. The work, published in the August 3, 1998, issue of EMBO Journal, confirms mechanistic ideas about the function of this protein stemming from the authors' fundamental structural and biochemical studies of the related protein p120GAP (Mittal et al., 1996, Science 273, 115-117; Scheffzek et al., 1996, Nature 384, 591-596; Scheffzek et al., 1997, Science 277, 333-338; Ahmadian et al., 1997, Nature Struct. Biol. 4, 686-689).

von Recklinghausen neurofibromatosis, also called type 1 neurofibromatosis or simply NF1, is an inherited disease that predisposes the formation of certain types of tumors and may be associated with a number of other symptoms including learning disabilities and mental retardation. So-called Lish nodules of the iris or pigmentation abnormalities of the skin (so-called ‘caf-au-lait spots’) and neurofibromas, benign cutaneous tumors, are hallmarks of NF1 with important diagnostic relevance. In rare cases, NF1 may develop into malignant tumors.

The so-called NF1 gene is responsible for the development of the disease. It codes a huge protein, termed neurofibromin, comprising nearly 3000 amino acids, and it is disrupted or mutated in patients affected with

Contact: Klaus Scheffzek
Fax: 49-231-1206-23

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