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What Is Dreifuss Muscular Dystrophy?

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Recommended: Difference of prokaryotic and eukaryotic

a.)
The nucleus of a eukaryotic cell is surrounded by two phospholipid bilayer membranes, with nuclear pores connecting them and regulating the movement of materials between the nucleus and the cytosol (1). The nucleus of a eukaryotic cell is the largest organelle, and within in it is the DNA. The DNA within each cell is identical within every cell in an organism, with only small differences due to mutations. The DNA within a nucleus is consists of two chains of combinations of Adenine, Thymine, Guanine, and Cytosine, with each chain held together by a Phosphate-deoxyribose backbone (1). The two chains are form a double helix structure, with the pattern of each chain complementary to the other, with Adenine hydrogen bonding to Thymine, and Guanine hydrogen bonding to Cytosine. The DNA along with specific proteins are further organised into Chromosomes, individual continuous pieces of DNA.

b.) …show more content…

The EMD and LMNA genes are used in the synthesis of proteins that are components in the membrane of the nucleus that regulate the molecules that enter and exit the nucleus. The inheritance pattern of Emery-Dreifuss muscular dystrophy is dependent of which of these two genes is defective. For the mutated EMD gene, it is inherited in an x-linked recessive pattern, resulting in males being at a significantly higher risk of being affected than females. The mutation of the LMNA gene results in an autosomal dominant inheritance pattern, requiring its presence in only of the parent’s DNA to

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Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample

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The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4).

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The results fitted nicely with the author’s hypothesis, showing PGC-1α gene transfer was able to control and enhance dystrophin-deficient muscle functioning. Despite successful results, the authors have noted contradicting findings such as increased inflammation in the treated limbs. Little explanation was given as to why and whether it could affect the muscle in the long run, so more elaboration is needed. Overall, the study was well-designed with results to support the hypothesis of this potential treatment for DMD to mitigate symptoms and restore muscle

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Duchenne Muscular Dystrophy occurs on the DMD gene, but the DMD gene is on the X chromosome. This means it is sex-linked, or in the sex chromosomes, but it is also a recessive gene. This means that males are more likely to get it because they only have one copy of the X chromosome, so there is no other healthy X chromosome to compensate for their mutated one. Since Duchenne Muscular Dystrophy is sex-linked, it does have a hereditary component. The following Punnett Squares show the likelihood of parents who are Heterozygous, Homozygous Dominant, or Homozygous Recessive offspring having Duchenne Muscular Dystrophy.

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