• What are the critical functions of the skeletomuscular systems? How are they essential for life?
Skeletomuscular system provides support and movement. It also stores calcium in our body. In addition, the basic concept underlying of skeletomuscular are protein structure and function.
• How do the skeleton and skeletal muscle work together to allow movement?
The skeleton and skeletal muscles are interconnected that the outer covering on most skeletal muscles is continuous with the outer covering of the bone they are attached to. Skeleton and skeletal muscle work together to perform several function key; to provide movement and locomotion, manipulate the environment. These systems also protect the organ in the thoracic and abdominopelvic cavities,
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National Library of Medicine, 2013).
• How does it affect skeletal muscle function?
The muscles fiber membrane contains a group of proteins-the dystrophin-glycoprotein complex that prohibits harm as muscle fibers contract and relax. When this protective membrane is damaged, muscles fibers begins to leak the protein creatine kinase and take on excess calcium, which causes further harm.
• Does DMD affect boys and girls equally? If not, who are primarily affected and why?
Because DMD is an inherited in X-linked recessive pattern, and males only have one copy of the X- chromosome, not like female that two copies of x chromosome, if one copy does not work there is another one to produce dystrophin. “With an X-linked recessive condition, the chance of passing on the change (non-working) copy of the gene to a child is different for males and females” (National Human Genome Research Institute, 2013).
• What is SMA? What gene is mutated?
According to Muscular Dystrophy Association (MDA), Spinal Muscular Atrophy (SMA)is define as the loss of nerve cells in the spinal cord called motor neurons. SMN1 genes on chromosome 5 cause the defect in that form in SMA
Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.
DMD also only affects males, but women can unknowingly be carriers of the disease. They may not know they carry it if they have no brothers or were adopted.
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are
Since DMD is an inherited X-linked recessive disorder, males who gain the mutated gene on the X chromosome are affected, whereas females have two X chromosomes, in this case the chromosome without the mutation will compensate. Individuals are usually diagnosed with this very aggressive disorder in childhood. As I grow in my profession here at Kaplan, I am educated on the importance of providing care that is focused around the patient, which aspires me to offer compassionate care. I find it very unfortunate that children are affected by many disorders and diseases that are fatal. Most children with terminal diseases have a limited time to experience blessings in the world, which gives me the desire to be a blessing to them. Ultimately, I would like to become a Pediatric Nurse, making this disorder
This activity is the critical driving force of muscle contraction. The stream of action potentials along the muscle fiber surface is terminated as Acetylcholine at the neuromuscular junction is broken down by acetyl cholinesterase. The release of Calcium ions is ceased. The action of the myosin molecule heads is obstructed because of the change in the configuration of troponin and tropomyosin due to the absence of calcium ions. This will eventually cause the contraction to be ceased. Together with these physical processes, an external stretching force such as gravity pulls the muscle back to its normal length.
Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected
The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.
It took an additional six years for researchers to glimpse at the functions provided by SMN1. Meister et al. categorized the SMN1 protein an essential to promote correct assembly of U12 small ribonucleoproteins (snRNPs). In genetics, snRNPs are nucleic proteins responsible for the splicing of premature ribonucleic acid chains (pre-mRNA) derived from genes. Without correct splicing, mature ribonucleic acid chains (mRNAs) produce dysfunctional proteins when translated. In this case, splicing functionality of U12 - intron containing transcripts is lost, and because the transcript is wrongly coded, its translation will produce a functionless protein. Hence, loss of SMN1 results in an inability form U12 snRNPs splicing complexes, and reduced splicing functionality results in loss of U12 - intron splicing functionality (Patel and Steitz, 2003).
An example of one such category of muscular dystrophy is distal muscular dystrophy. distal muscular dystrophy causes atrophied muscles due to a damaged DYSF or ANO5 gene. The DYSF gene aids in the creation of dysferlin. Dysferlin is found in the thin sarcolemma of the muscle tissue which is thought to aid the sarcolemma in repairing muscles. Since the production of dysferlin is inhibited by this form of muscular dystrophy, the muscles are not able to be repaired, leading them to become progressively more damaged and ineffective over time. Abnormalities in the other ANO5 gene, which produces anoctamin-5 affect muscles by reducing if not eliminating said protein. ANO5 is thought to provide transport for chlorine ions to the muscle cells of a muscle. These two genetic disorders are usually closely linked and it is common for the abnormality of one gene
ii) The faulty DMD gene is located on the X chromosome. So, if a female (XX) has the faulty gene, the other X chromosome will take over the production of dystrophin and the female will usually exhibit little or no symptoms but may pass the gene on to her offspring. If a male (XY) inherits the faulty gene (from his mother), he will exhibit the disease, because there is no secondary X chromosome to take charge of the function.
Although there are many other functions that the muscular system performs, there are three main basic functions. They are motion and movement, stability, and thermogenesis. These functions are important. Motion and movement are how the muscular system helps move substances within your body. For example, the muscular system help with digestion. Smooth muscles in the muscular system helps the process of digestion. Stability is how the muscular system help stabilizes your body position. Using the skeletal muscles, the muscular system helps to stabilize the skeleton to help with our body position. The skeletal muscles help with joints that are to weak to fully support the body. Thermogenesis is how your muscular system helps the body to maintain
The human skeleton has 6 main functions that provide the body with good health. They are as follows:
The calcium salts of bone represent a valuable mineral reserve that maintains normal concentrations of calcium and phosphate ions in body fluids. In addition, fat cells within marrow cavities store lipids that represent an important energy reserve. The bones of the skeleton function as levers that direct and modify the forces generated by skeletal muscles. The movements produced range from the delicate motion of a fingertip to powerful changes in the position of the entire body.
The importance of the dissection performed in class was to better understand the importance and the structures of the muscular system. The muscular system contains skeletal muscles, this is what helps the body function every day. Skeletal muscles are the correlation between muscles and bones that work together in the body. Fibers tighten in the body, allowing the skeletal muscle to create movement within the skin; this is made up of connective tissue and skeletal muscle tissue. These muscle tissues are found throughout the body with different characteristics and correlations with one another.
The circulatory and immune systems are two very closely related systems. The circulatory is composed out of blood vessels, the heart, and blood. The immune system is made up of white blood cells and various lymph nodes. Basically, most of the immune system is found inside the blood of the circulatory system. The circulatory system provides the body with blood. It gives the kidneys of the digestive system something to filter and picks up nutrients from the small intestines. It also picks up air from the lungs of the respiratory system and provides the brain of the nervous system with blood, along with the rests of the body. Protection from wounds in the integumentary system is also provided by the circulatory system which has platelets that aid in blood clotting and forming scabs. The immune system protects all the other systems from disease and helps them from being attacked by viruses and bacteria. It also aids the ears of the nervous system with some very protective earwax. The circulatory system provides us with life fluid while the immune system protects that fluid and the rest of our body.