TY - JOUR
T1 - Expression profiling characterization of laminin α-2 positive MDC
AU - Millino, Caterina
AU - Bellin, Milena
AU - Fanin, Marina
AU - Romualdi, Chiara
AU - Pegoraro, Elena
AU - Angelini, Corrado
AU - Lanfranchi, Gerolamo
PY - 2006/11/17
Y1 - 2006/11/17
N2 - In the Caucasian population, patients affected by the most frequent forms of congenital muscular dystrophies (MDC) are commonly divided into two groups. The first is characterized by mutations of the gene for the laminin α-2 (LAMA2). The second is positive for this protein, highly heterogeneous, and has no specific genetic defect associated yet. We studied the skeletal muscle transcriptome of four LAMA2 deficient and six LAMA2 positive MDC patients by cDNA microarrays. The expression profiling defined two patients groups: one mild and one severe phenotype. This result was in agreement with histopathological features but only partially with the clinical classification. The mild phenotype is characterized by a delayed maturation from slow to fast muscle fibers. Other muscle transcripts, such as telethonin, myosin light-chains 3 and 1 V, are underexpressed in this group. We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin α-2 positive MDC.
AB - In the Caucasian population, patients affected by the most frequent forms of congenital muscular dystrophies (MDC) are commonly divided into two groups. The first is characterized by mutations of the gene for the laminin α-2 (LAMA2). The second is positive for this protein, highly heterogeneous, and has no specific genetic defect associated yet. We studied the skeletal muscle transcriptome of four LAMA2 deficient and six LAMA2 positive MDC patients by cDNA microarrays. The expression profiling defined two patients groups: one mild and one severe phenotype. This result was in agreement with histopathological features but only partially with the clinical classification. The mild phenotype is characterized by a delayed maturation from slow to fast muscle fibers. Other muscle transcripts, such as telethonin, myosin light-chains 3 and 1 V, are underexpressed in this group. We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin α-2 positive MDC.
KW - Congenital muscular dystrophies
KW - Expression profiling
KW - Muscle-specific microarray
KW - Patient characterization
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U2 - 10.1016/j.bbrc.2006.09.063
DO - 10.1016/j.bbrc.2006.09.063
M3 - Article
C2 - 17010933
AN - SCOPUS:33749354868
VL - 350
SP - 345
EP - 351
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -