DUCHENNE MUSCULAR DISORDER
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a genetic disease characterized by progressive muscle weakness, is present at birth in
people who have the condition.
muscles lack a protein called dystrophin, which is critical for muscle function and repair.
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Dystrophin mutation can be rooted to mutations on the DMD gene on the X
chromosome; potentially splicing of introns or deletion of exon 50.
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In skeletal and cardiac muscles, dystrophin is part of a group of proteins (a protein
complex) that work together to strengthen muscle fibers and protect them from injury as
muscles contract and relax.
Dystrophin is Made of 3684 amino acids in 79 exons and 78 introns
Dystrophin acts as a shock absorber within the muscle cells, reducing any damage
caused by muscle contractions. Without it, muscles are damaged, there’s inflammation,
and those muscles ultimately deteriorate
each end of the dystrophin molecule is tailored to interact with either the center(actin
cytoskeleton) or at the dystrophin-associated glycoprotein complex (DGC) at the edge of
muscle cells, and it’s a long protein, which allows it to reach from the center to the edge
of muscle cells.
From mRNA codon sequences to amino acids
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MODELS TO MAKE
-​ Dystrophin paper chain
-​ 79 exons and 78 introns labeled with any of the 4 amino acids except dystrophin
-​ DGC and actin cytoskeleton
-​ Muscle cell
-​ Actin-dystrophin-dgc-muscle cell membrane display