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Published Data
Gene Expression Profiling
of Duchenne Muscular Dystrophy Skeletal Muscle
Haslett J. N., Sanoudou D., Kho A. T., Han, M., Bennett
R. R., Kohane I. S., Beggs A. H. and Kunkel L. M. Neurogenetics.
2003 Aug;4(4):163-71. Epub 2003 Apr 16.
PMID:
12698323 [PubMed - in process]
Genetics Division and Genomics Program, Neurology Department,
Children's Hospital Boston and Harvard Medical School, Boston,
MA, 02115, USA.
Abstract
The primary cause of Duchenne muscular dystrophy is a mutation
in the dystrophin gene, leading to absence of the corresponding
protein, disruption of the dystrophin-associated protein complex
and substantial changes in skeletal muscle pathology. Although
the primary defect is known and the histological pathology
well documented, the underlying molecular pathways remain
in question. To clarify these pathways, we used expression
microarrays to compare individual gene expression profiles
for skeletal muscle biopsies from DMD patients and unaffected
controls. We have previously published expression data for
the 12,500 known genes and full-length ESTs on the Affymetrix
HG-U95Av2 chips. Here we present comparative expression analysis
of the 50,000 EST clusters represented on the remainder of
the Affymetrix HG-U95 set. Individual expression profiles
were generated for biopsies from ten DMD patients and ten
unaffected control patients. Two statistical analysis methods
were used to interpret the resulting data; t-test analysis
to determine the statistical significance of differential
expression and geometric fold change analysis to determine
the extent of differential expression. These analyses identified
183 probe sets (59 of which represent known genes) that differ
significantly in expression level between unaffected and disease
muscle. This study adds to our knowledge of the molecular
pathways that are altered in the dystrophic state. In particular
it suggests that signaling pathways might be substantially
involved in the disease process. In addition it highlights
a large number of unknown genes whose expression is altered
and whose identity therefore becomes important in understanding
the pathogenesis of muscular dystrophy.
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•Neurogenetics
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