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
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Contact: Klaus Scheffzek
Klaus.Scheffzek@mpi-dortmund.mpg.de
Fax: 49-231-1206-23
Max-Planck-Gesellschaft
14-Aug-1998