Virginia Kimonis is particularly interested in inherited muscle
disorders that occur in combination with diseases of bone. Families with
a combination of muscle disease, Paget disease of bone, and dementia
(also known as IBMPFD) have been studied in the laboratory, and the gene
for the disorder has been localized to chromosome 9. By identifying the
causal gene (VCP, CDC48 or p97) for this disorder, the researchers are
now identifying the key pathways and functions that are disrupted by the
mutations they have found in the affected families.
The Kimonis group is studying additional members of the original
families and additional families with the combination of muscle and bone
disease and are looking at the relationship between the familial
disorders and the individuals' genetic makeup. They are also looking for
other disorders that have various combinations of muscle, bone and
brain disease, which may be related to IBMPFD and result from mutations
in genes that are part of the VCP pathways.
Identifying the single gene responsible for IBMPFD could have
implications in many disciplines, leading to greater understanding of
inclusion body myopathy, dementia and Paget disease of the bone. These
findings may not only make it possible to develop better clinical
treatments for families with IBMPFD, but also for those with other
sporadic and hereditary diseases that share components of IBMPFD.