Experiencing Severe Headaches and Nausea
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Experiencing Severe Headaches and Nausea
Florence is an active 44-year-old elementary school teacher who began experiencing severe headaches and nausea. She told her physician that her energy level had been reduced dramatically in the last few months, and her arms and legs felt like they “weighed 100 pounds each,” particularly after she worked out in the gym. The doctor performed a complete physical and noticed that she did have reduced strength in her arms and legs and that her left eyelid was droopier than her right.
He referred her to an ophthalmologist, who discovered that she had an unusual pigment accumulation on her retina that had not yet affected her vision. She then visited a clinical geneticist, who examined the mitochondria in her muscles. She was diagnosed with a mitochondrial genetic disorder known as Kearns Sayre syndrome. Mitochondria are responsible for the conversion of food molecules into energy to meet the cell’s energy needs. In mitochondrial disorders, these biochemical processes are abnormal, and energy production is reduced.
Muscle tends to be affected particularly because it requires a lot of energy, but other tissues, such as the brain, may also be involved. In the microscope, the mitochondria in muscle from people with mitochondrial disorders look abnormal, and often accumulate around the edges of muscle fibers. This produces a particular staining pattern known as a “ragged red” appearance, and this is usually how mitochondrial disorders are diagnosed. Mitochondrial disorders affect people in many ways. The most common problem is a combination of mild muscle weakness in the arms and legs, together with droopy eyelids and difficulty in moving the eyes.
Some people do not have problems with their eye muscles but have arm and leg weakness that gets worse after exertion. This weakness may be associated with nausea and headaches. Sometimes muscle weakness is obvious in small babies if the illness is severe, and those babies may have difficulty feeding and swallowing. Other parts of the body may be involved, including the electrical conduction system of the heart. Most mitochondrial disorders are mildly disabling, particularly in people who have eye-muscle and limb weakness.
The age at which the first symptoms develop is variable, ranging from early childhood to late adult life. About 20% of those with mitochondrial disorders have similarly affected relatives. Because only mothers transmit this disorder, it was suspected that some of these conditions are caused by a mutation in the genetic information carried by mitochondria. Mitochondria have their own genes, separate from the genes in the chromosomes of the nucleus.
Only mothers pass mitochondria and their genes to children, whereas the nuclear genes come from both parents. In about one-third of people with mitochondrial disorders, substantial chunks of the mitochondrial genes are deleted. Most of these individuals do not have
affected relatives, and it seems likely that the deletions arise either during development of the egg or during very early development of the embryo. Deletions are particularly common in people with eye muscle weakness and the Kearns-Sayre syndrome.
- Why would mitochondria have their own genomes?
- How would mitochondria be passed from mother to off spring during egg formation? Why doesn’t the father pass mitochondria to off spring?
RUBRIC
Excellent Quality
95-100%
Introduction 45-41 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Literature Support
91-84 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Methodology
58-53 points
Content is well-organized with headings for each slide and bulleted lists to group related material as needed. Use of font, color, graphics, effects, etc. to enhance readability and presentation content is excellent. Length requirements of 10 slides/pages or less is met.
Average Score
50-85%
40-38 points
More depth/detail for the background and significance is needed, or the research detail is not clear. No search history information is provided.
83-76 points
Review of relevant theoretical literature is evident, but there is little integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are included. Summary of information presented is included. Conclusion may not contain a biblical integration.
52-49 points
Content is somewhat organized, but no structure is apparent. The use of font, color, graphics, effects, etc. is occasionally detracting to the presentation content. Length requirements may not be met.
Poor Quality
0-45%
37-1 points
The background and/or significance are missing. No search history information is provided.
75-1 points
Review of relevant theoretical literature is evident, but there is no integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are not included in the summary of information presented. Conclusion does not contain a biblical integration.
48-1 points
There is no clear or logical organizational structure. No logical sequence is apparent. The use of font, color, graphics, effects etc. is often detracting to the presentation content. Length requirements may not be met
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Experiencing Severe Headaches and Nausea