Duchenne And Becker Case Study

1. Duchenne and Becker
a. The symptoms of Duchenne and Becker have similar symptoms such as:
i. Both dystrophies affect mainly males where it attacks their heart muscles and skeletal muscles. Both are needed in movement for the body so some may lose their ability to walk/move ii. Where the heart muscles are weak to the point the heart can’t pump blood sufficiently enough. Eventually with time, typically from adolescence to adulthood, the heart defect develops where the heart has become enlarged with irregular beating that causes breathing problems and tiredness. iii. They differ in symptoms such as:
1. Duchenne typically affects boys in childhood and symptoms worsen very quickly whereas Becker sees the same symptoms but they won’t show till …show more content…
The DMD disease affects a protein in the body called Dystrophin that is associated with muscle fibres. Mutations from the disease cause alterations to the structure of the protein or it’s just not produced in general. Basically, insufficient amounts of dystrophin or faulty versions causes damages to muscle cells hence the movement impairment and eventually death of muscles. If the dystrophin is altered on its structure but can still somewhat function then you get Becker’s but if it’s prevented from being produced in general then you get Duchenne.
i. There is a 50% probability of brothers carrying the gene because they’ll receive the same X chromosome copy from their mother and they will either receive the “faulty” X or the “good” X chromosome, but either way, both brothers stand an equal chance of receiving the disorder and expressing it (unless they don’t have the same mom)
c. Females would more likely be carriers of DMD, rather than be affected. The disease is an X-linked recessive disorder. For boys, they only get one X copy from either their carrier mother and it’s enough for the disease to be expressed in the male. Whereas for females, they get two copies of the X chromosome and for them they would need both copies to be faulty for the disorder to be expressed. It’s unlikely for females to receive two bad copies of the X chromosome and therefore are either unaffected or carriers of the …show more content…
Epigenetics is when chemical compounds have been added to a gene that either enhance or regulate its function.
b. An example given by the film explained
i. Epigenetics is like music. Sheet music has the notes and lines which make up the music (here the notes and lines are our genes and the music is our body) and the way a musician plays and interprets the notes to make music is the way epigenetics expressing the genes. ii. A second example given is the concept of twins. Twins are made up to be genetically identical, but still to some degree, are different enough because of the way their epigenetics influence the way the genes are expressed.
c. It’s related because studies have found with cancer there are forms of reactivation of the X chromosome. The structure is more dense and relaxed and essentially the epigenetics of the silenced X chromosome has been disturbed to the point of reactivation. Such a reactivation can lead to the growth of cancerous tumors.
d. Epi-drugs are used as a potential way to reverse certain epigenetic changes and instead reprogram them so they are helpful and not harmful to the body. Epi-drugs specifically target the particular epigenetic processes to potentially stop or slow down those processes that could turn out to be

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