Several years ago, research teams located the exact position of
the NF1 gene on chromosome 17.
The product of the NF1 gene is a large and
complex protein called neurofibromin, which is
primarily active
in nervous cells as a regulator of cell division. Intensive efforts have
led to the
identification of the NF2 gene on chromosome 22.
The NF2 gene product is a tumor-suppressor protein called merlin. Ongoing research
continues to
discover additional genes that appear to play a role in NF-related
tumor suppression or growth.
Other research is aimed at understanding how
the genetic mutations that cause the benign tumors of
NF1 also cause nerve
cells and nerve networks to form abnormally during fetal development, which
later result in the learning disabilities and cognitive deficits of children
with the disorder.
Additional research is aimed at understanding the natural
history of tumors in NF2 and
determining possible factors that may regular
their growth patterns. The Interinstitute Medical
Genetics Research Program at the NIH Clinical Center conducts NF2 family
history research.
Using specimens from some of the families, scientists have
isolated and sequenced the NF2
gene and have described two different patterns
of clinical features in NF2 patients.
Investigators are continuing to study
these patterns to see if they correspond to specific types
of gene mutations.
McClatchey AI (2007) Neurofibromatosis. Annu Rev Pathol 2: 191–216. [PubMed]
Courtois-Cox S, Genther Williams SM, Reczek EE, Johnson BW, McGillicuddy LT, et al. (2006) A negative feedback signaling network underlies oncogene-induced senescence. Cancer Cell 10: 459–472.[PMC free article] [PubMed]