|
GENE EXPRESSION IN NORMAL AND DISEASED
MUSCLE DURING DEVELOPMENT
 |
Thank you for your interest in our research. This section
contains a brief overview of the research we are conducting
for the Harvard Neuromuscular Disease Project. Researchers
and healthcare providers may want to visit the Researcher
Information section for a more detailed explanation
of the projects involved in this research endeavor.
Patients may want to visit Our
Research in the Patient and Family information section
for more information.
The last decade has witnessed remarkable progress in
finding the causes of inherited muscle disorders. There
are numerous genetic muscle diseases, all which may
affect each individual differently. More than 40 different
genes have been identified that contain the instructions
for normal muscle development and structure. A mutation
or error in any one of these genes may result in a muscular
disease.
Researchers are actively studying these genes and mutations
in them. However, there are many important questions
researchers still have not answered regarding the pathogenesis
of muscle cell degeneration (break down) in these diseases
and strategies for their treatment.
|
The Harvard Neuromuscular Disease Project is a collaborative
effort to use classical methods of gene and protein analysis,
as well as state-of-the-art gene expression array technology
to study the unanswered questions. Four projects with unique
features, but overlapping concepts and methodologies comprise
the Neuromuscular Disease Project. The aim of the Project
is to identify patterns of gene expression that are global
in all dystrophies or distinct to specific sets of dystrophies
and myopathies. Ultimately, this will provide insight into
the molecular basis of normal muscle development and its dysfunction
in these disease states. Long-term, our hope is to use this
information in conjunction with the insights from studies
of stem cell biology to devise new approaches to the treatment
of the muscular dystrophies and related myopathies.
- Project One focuses on the dystrophin-associated complex
of proteins, emphasizing sarcoglycans and the newly described
filamin-C.
- Project Two investigates the biology of dysferlin, its
potential protein partners, and how these are altered by
dysferlin gene mutations.
- Project Three examines the function of myotubularin in
normal muscle development and the mechanisms by which its
mutations cause developmental myopathies.
- Project Four investigates the biological and therapeutic
properties of muscle stem cells and their potential as gene
vectors for the therapy of muscle disorders. The identification
of candidate genes that are uniquely expressed by human
muscle stem cells will help in understanding how muscle
stem cells differ from more committed myoblasts and start
to illuminate why muscle stem cells can differentiate into
bone marrow
|
