Duchenne Muscular Dystrophy (DMD) is an genetic muscle-wasting disease that leads to disability and early death. In all cases of this disease, the gene for a protein known as dystrophin is mutated. How does a dysfunctional dystrophin gene cause DMD? Find out in this episode of Medicurio.
Interesting to note: Becker's Muscular Dystrophy is a similar disease, but with much milder symptoms. People who have this disease also have a mutation in the dystrophin gene, but instead of making completely useless dystrophin, the protein is still semi-functional. People with Becker's dystrophy have much slower muscle wasting and live into the 50's and 60's.
Cool links to check out to learn and donate to DMD research:
Cure Duchenne: www.cureduchenne.org/
Muscular Dystrophy Canada: www.muscle.ca/
Muscular Dystrophy Association: www.mda.org/
Excellent video on how Exon Skipping works, courtesy of Cure Duchenne: • Prosensa's Video Anima...
The full process to get from DNA to protein is outlined in the central dogma of biology.
1. Genes are in the nucleus of the cell as DNA.
2. RNA polymerases make an RNA copy of the gene, known as the primary RNA transcript or pre-mRNA.
3. The primary RNA transcript undergoes some processing, such as splicing exons together.
4. mRNA exits the nucleus and into the cytoplasm, where ribosomes read the mRNA one codon at a time. Each codon corresponds to a certain amino acid or a stop codon.
5. Amino acids are linked together until a stop codon is reached, finishing the protein.
You can find a realistic animation of this process here, courtesy of the DNA Learning Centre: • The Central Dogma of B...
21 дек 2016
