Organelle Case Study Directions: Complete this case study in sections: read Part 1 and answer the questions immediately following: read part 2 and answer the questions immediately following and so on. If you use an outside source, cite that source immediately after your answer. Part I – Bringing Home Baby After many years of trying to get pregnant again, Kenneth and Vicki Johnson were thrilled at the birth of their baby Nicole. Their first child had died mysteriously at 12 months of age, and it had taken five years for Vicki to become pregnant again. “Kenneth, she's so beautiful! She has your mom's nose!” Vicki remarked to her husband. “I think you may be right! It does look like my mother's nose…and it looks like she has your eyes!” Kenneth responded. Both the pregnancy and delivery had gone smoothly. But in the back of their minds, Kenneth and Vicki couldn't help but worry about their baby girl who had died five years before. For the first three months, baby Nicole seemed fine. She was meeting all of her developmental milestones. However, at four months old she developed a severe viral respiratory infection. While her body tried to fight the infection, Nicole began to have problems sucking and turning her head. She wasn't gaining weight as she should. She appeared to have little appetite, and she began vomiting. She was irritable and cried almost continuously. These symptoms are not characteristic of a respiratory infection. Vicki and Kenneth were afraid because these symptoms seemed very similar to what had happened prior to the death of their first child. “What is going on? I can't believe this is happening again,” Kenneth thought to himself. Kenneth and Vicki rushed Nicole to the emergency room. While they waited in the emergency room, Nicole had a seizure. As the doctors tried to stabilize her, they noticed that Nicole had decreased muscle tone. The ER doctor ordered metabolic screening of Nicole's blood and urine. The doctor also ordered an MRI (magnetic resonance imaging). While waiting for the results of the screen and the MRI, Kenneth told the doctor that five their child was almost too much to bear. They sat guitly as the deste recommended that they undergo perctic testing as well as geneti.counseling Question years ago their first child died mysteriously at 12 months after suffering from similar symptoms. A short time later, the results of the blood and urine tests came back. The preliminary tests on Niceleshewed she had clevated plasma lactate and pyruvate level. The MRI showed discrete hilaterally symmetric lesions in the basal ganglin and brainstem. The failure to this.regression of derdlopmental skills during a viral infection, vomiting, and scare suggested that multiple organ systems were being affected. Questions • What was Nicole's diagnosis? Whatge mutation is probably inhed? • The mutation described above affects a protein.commonly found in cellular arganelles invoedin.cara production. What arganelle would this most likely be? • How many people are born with Leigh Syndrome (LS? • What is the expected lifespan for LS sufferers! • What does the phrase “failure to the mean? • What are some reasons why Reborn babies all to the • What was the event that triggered Nicole's deterioration! • What.mptoms creed her parents to take her to the doctor? What symptoms presented while at the hospital • What were the results of the metabolic tests and MRI? Part III – Understanding the Cell Kenneth and Vickie in a state of shock as they drove home. The doctor had said that Nicole's disease was caused by defecte cellular organelle. How he hadn't explained what an organele was er which one was defecte, Kenneth decided to do some research. I need to better understand the source of Nicole's illness, Kennethsaid with resolve. He searched the Internet for information using the words clearergandile. He found the following picture and Information Features of Plant and Animal Cellsi Allihing organisms are made for more.se Celle containerganelles. Organeles are defined as a specialized subunit.cl that has a specific function. The information below describes the war gandles found in cells along with their function Call us nucleus. The nucleus centres the sell's activities. Abo contained within the sucess is the nucleolus. The dealus ise in the production arbome. The kusabe contains the chromatin. Chromatinis secondensed DNA and serves as the Mesprint for controlling the cell's functions and for building more Part II – The Diagnosis Given the results of the metabolic screen, the multiplaystem invehement, and the telltale estens in the brain, it appears that Nicolas Leigh Syndrome (LS), reported the ER doctor. “Leigh syndrome is a sereneuralogical disorder that usually arises in the first year offe. It is characterized by the degeneration of the central system. Its ons in typically triggered by a siral illness. This condition is characterised by progressive loss of mental and movement abilities and pically results in death within a couple of years, usually due to respiratory failure.” explained the doctor. The doctor continued: Leigh Syndrome affects approximately one in M.010 to 40,00 Bewborns. Most cases of Leigh Syndrome are sociated with Buckar mutation in the SURFI gone. This kad to a defect in protein found in cellular organelles responsible for Ce production. Since these arelles are found in all cells, allora the bedy will be affected, especially organs like the brain, heart, and Getract, which have higher needs. This syndrome can be inherited in different ways but is wally inherited autosomal recessive condition. concluded the doctor. The doctor then proceeded to caplain how autosomal recessive conditions are inherited. “Far an Individual to be affected her she would need to inherita dcfective to working copy from each parent. The individuals then be described as being hemory.com Essessive. the dector explained beligure 1). Kenneth and Vicki were dumbfounded. Not only were they faced with the prospect losing another child, the idea that they were responsible for passing the defected get Outside the skies is the cytoplasm. This cous material.contains numerus ether organelles. Ribosomes are found Boating in the cytoplasms attached to the endoplasmic reticulum (ER). They hele proteins. The ER I of interconnecting flattened tubular channel. The ER takes the form.c.ch ER and smouth ER. The smooth ER plagurele in lipid gathesis. The rough ER has ribosomes attached and plus role in protein synthesi protein and protein folding Smallesicles containing nen synthesized protein separate from the end of the ER. The voice sed te shig them to other parts of the collect the outside of the cell They can be be shipped to the Golgi apparatus for further protein modification, sorting and packaging. The Golgi apparatus is a stack of membraneus flattened sacs and is directly Associated with the endoplasmic reticulum. factory is often used as an analigfor the cell. A factory.com raw materials te useful products much like the cell dies. The factory has different components, offices and staff persons that carry on different function in ander to make the product and keep the factory ring mothly. This is to the cell all in that it has different organelles performing different functions. The various organelles All hate specific role in the smooth functioning of the cell. If angle of the cell is damaged, the cell can't function properly and it may not functional. Since the calls the bask building block of an organism, protly or non-functioning and will impact the health of the entire organism. Additional organelles Include small vacuoksIyesomes. peroxisomes, and mitochondria. Small scuoles are invested in storage. Lysosomes contain hydrobok enzymes that are for Intercellular digestion of macromolecules. They abe degrade wen outorganelles. Products of their degradation can be ressed Peroxisomes are responsible for protecting the cell as they rid the body.sk substances such as hydrogen peroxide Preshomes also break down ft. Mitochondria are the sites are respletion, and trally are the major production center in cells. They product ATP, the universale carrier of cells from organ molecules such as carbohydrates, proteins, and lipids. Cells he cytoskeletal components such as microtubules, act, and intermediate filaments. These components play numer roles in the cell such as support structure and movement Microtubules are found in cilinmitehallergandles Involved in movement of much of the lungs and the in the fallopian tube and flagella (similar tecili betonger and typically found on sperm. “Now Ixti Enchellingur body is like a little factory and the organelles are le parts of the factory, Mitochondria are organele that producenery for the factory to run. Without cry the cellular factories can't function.exclaimed Knatth. At that point. Kenned he had been most of the night. He decided to go to bed and share what he had karned with in the morning Danian • What organismespeable for production in the call • What do you think will happen to the cell and the organism aver time it it can't producten? • Explain in your en word hy defects in this producing organelle would kad to the symptoms. seen in Nicole Lastly..cells he cell membrane. The thin membrane is essential in controlling exchange between the cell and its environment. Il y efficient barrier, but also allons…controlled traffic of materials across itin both directions. The membrane Is therefore considered. partially semi-permeable. It allows me materials to pa but mothers Sean ergalleis kind of like a miniature and the call that does something special for the cell. Kenarth said outloud. He then skimmed through the information again to find the cell organelles responsible for energy production that the doctor referred to when explaining Nicole condition. From the information. I just read the mitochondria isinale in care production for the cell. So this must be the defective organelle that the doctor was referring tel Kenneth.caclaimed excitedly. But how could this one tiny defective organele cause the range of problems that Nicolas,” he wondered. Kenneth decided to do some mors research. While researching, he found the following information. Understanding the structure and Function of the Cell: In order to understand the organization of the cell and remember the war.clular organells it might be ful to use an analog. An analogy compares something new with something you already know. The concept is the analog and the unknown concept is the target. A PALIY Treatment and Progress Kenneth and Vidhidroe back to the hospital carly the next day. Nicole's.condition was stable. The doctor sat down with them to discuss the next step “Nicek should do tretic testing in order to determine which mutatie she has. This will make it easier forecast how quickly the disease will progress. There are at least 26 defects that can come this disease. They have different modes of inheritance depending on the mutation and defective proteins inobed,” the doctor stated. The main commenti however, all at the stations and defective proteins affect the core producing functions of the mitochondria “You stated that most people with this diserder die within a couple but some may live longer. Is there anything we can do treatment to prolong her life. Vicki asked. “Most of the treatments for Leigh Disease are supportive, as there a cure. The main form of treatment includes thiamine. or Vitamin B supplements. The vitamins play an Important role in metabolism of carbohydrates into cellular Energy, the main process affected in pexple with Leigh Disease. It may also strengthen the immune system and Improve the body's ability to withstand stress, the doctor explained. “A Nighfat, low carbohydrate ketogenic) diet may also be useful it turns out that Nicole has the X-linked form of the disease. This son of the disease has a different set of proteins mutated than the autosomal recesshe form of the discs. In addition to what I've mentioned, other treatment goals will include prending relief from specific symptoms.acha reducing lactic acid build-up.controlling is reducing. Basta and reducing vomiting. It is Important that you take as many precautions s.reasonably possible to minimize Nicole's exposure to other people who are sick with cold and other communicable. illnesses illness will exacerbate Nicole's illness. the doctor explained. wak, duy los amb control Buildup occh.cogen within muscle cells extreme Pompe muscle cakness and a flappy Beakdows macromolecules. appearance breathing difficulties trouble feeding Kartag Breathing problems Movement materialien sins. car, and our infections, infertility. and falloplate “I just can't believe how me ting defective cell part can be catastrophic Are there other examples of defective cellular organelles causing disease asked Kenneth “Yes. There are a whole host of disorders caused by defective cellular organelles.replied the doctor. He then went on to name some along with their symptoms. Party Repeats Kenneth and the hospital determined to make whatever time. Nicolchad left happy and healthy as possible. Initially the increased out of thiamine vitaminer diet seemed to help but that wentally stopped working Kenneth and Nicole did what they could to minimie. Nieprzerms that could make her ill. They tried experimental treatments. Unfortunately, despite their best efforts the disease progressed rapidly. At the of three, Nicole succumbed to her illness. She died at home with her. Mom and Ded by her side Questions 13 Why does the doctor want Nicole to undergo genetic testing? How will this help Nicole 14.What is the primary treatment for Leigh Discus? Whatether treatments Med? 15 The doctor named the syndromes and diseases listed below. Using what you have learned about cellular organelles.complete the table by matching the disease ordene with the affected organele using the symptoms and the organelles ermal functions.clues. Dice Affected Sindre Symptoms Organele Normal Function Orgele OY Catic Fibros 3 Chekingly thick mucus in the lungs frequentlung infections clogged pancreas digestive Regulates the mayments problems at faulty materials in and out of the cell calcium and chlorine channel proteins. Buildup of fatty acids in the Becak down fatty acids and tosi brain and spinal cordslethargi. cell products. ALD Organelle Case Study Directions: Complete this case study in sections: read Part 1 and answer the questions immediately following: read part 2 and answer the questions immediately following and so on. If you use an outside source, cite that source immediately after your answer. Part I – Bringing Home Baby After many years of trying to get pregnant again, Kenneth and Vicki Johnson were thrilled at the birth of their baby Nicole. Their first child had died mysteriously at 12 months of age, and it had taken five years for Vicki to become pregnant again. “Kenneth, she's so beautiful! She has your mom's nose!” Vicki remarked to her husband. “I think you may be right! It does look like my mother's nose…and it looks like she has your eyes!” Kenneth responded. Both the pregnancy and delivery had gone smoothly. But in the back of their minds, Kenneth and Vicki couldn't help but worry about their baby girl who had died five years before. For the first three months, baby Nicole seemed fine. She was meeting all of her developmental milestones. However, at four months old she developed a severe viral respiratory infection. While her body tried to fight the infection, Nicole began to have problems sucking and turning her head. She wasn't gaining weight as she should. She appeared to have little appetite, and she began vomiting. She was irritable and cried almost continuously. These symptoms are not characteristic of a respiratory infection. Vicki and Kenneth were afraid because these symptoms seemed very similar to what had happened prior to the death of their first child. “What is going on? I can't believe this is happening again.” Kenneth thought to himself. Kenneth and Vicki rushed Nicole to the emergency room. While they waited in the emergency room. Nicole had a seizure. As the doctors tried to stabilize her, they noticed that Nicole had decreased muscle tone. The ER doctor ordered metabolic screening of Nicole's blood and urine. The doctor also ordered an MRI (magnetic resonance imaging), While waiting for the results of the screen and the MRI, Kenneth told the doctor that five years ago their first child died mysteriously at 12 months of age after suffering from similar symptoms. A short time later, the results of the blood and urine tests came back. The preliminary tests on Nicole showed she had elevated plasma lactate and pyruvate levels. The MRI showed discrete bilaterally symmetric lesions in the basal ganglia and brain stem. The failure to thrive, regression of developmental skills during a viral infection, vomiting, and seizure suggested that multiple organ systems were being affected. Questions What does the phrase “failure to thrive” mean? What are some reasons why newborn babies “fail to thrive”? • What was the event that triggered Nicole's deterioration? What symptoms caused her parents to take her to the doctor? What symptoms presented while at the hospital? What were the results of the metabolic tests and MRI? Part II – The Diagnosis “Given the results of the metabolic screen, the multiple organ system involvement, and the telltale lesions in the brain, it appears that Nicole has Leigh Syndrome (LS).” reported the ER doctor. “Leigh syndrome is a severe neurological disorder that usually arises in the first year of life. It is characterized by the degeneration of the central nervous system. Its onset is typically triggered by a viral illness. This condition is characterized by progressive loss of mental and movement abilities and typically results in death within a couple of years, usually due to respiratory failure.” explained the doctor. The doctor continued: “Leigh Syndrome affects approximately one in 36,000 to 40,000 newborns. Most cases of Leigh Syndrome are associated with a nuclear mutation in the SURF1 gene. This leads to a defect in a protein found in cellular organelles responsible for energy production. Since these organelles are found in all cells, all organs of the body will be affected, especially organs like the brain, heart, and GI tract, which have high-energy needs. This syndrome can be inherited in different ways but is usually inherited as an autosomal recessive condition.” concluded the doctor. The doctor then proceeded to explain how autosomal recessive conditions are inherited. “For an individual to be affected, he or she would need to inherit a defective nonworking copy from each parent. The individual would then be described as being homozygous recessive,” the doctor explained (see Figure 1). Kenneth and Vicki were dumbfounded. Not only were they faced with the prospect of losing another child, the idea that they were responsible for passing the defected gene to their child was almost too much to bear. They sat quietly as the doctor recommended that they undergo genetic testing as well as genetic counseling. Questions What was Nicole's diagnosis? What gene mutation is probably involved? The mutation described above affects a protein commonly found in cellular organelles involved in energy production. What organelle would this most likely be? • How many people are born with Leigh Syndrome (LS)? • What is the expected lifespan for LS sufferers? Part III – Understanding the Cell Kenneth and Vicki were in a state of shock as they drove home. The doctor had said that Nicole's disease was caused by a defective cellular organelle. However he hadn't explained what an organelle was or which one was defective. Kenneth decided to do some research. “I need to better understand the source of Nicole's illness,” Kenneth said with resolve. He searched the Internet for information using the words “cellular organelle.” He found the following picture and information. Features of Plant and Animal Cells: All living organisms are made of one or more cells. Cells contain organelles. Organelles are defined as a specialized subunit within a cell that has a specific function. The information below describes the various organelles found in cells along with their functions. Cells have a nucleus. The nucleus controls the cell's activities. Also contained within the nucleus is the nucleolus. The nucleolus is used in the production of ribosomes. The nucleus also contains the chromatin. Chromatin is uncondensed DNA and serves as the blueprint for controlling the cell's functions and for building more cells. Outside the nucleus is the cytoplasm. This aqueous material contains numerous other organelles. Ribosomes are found floating in the cytoplasm or attached to the endoplasmic reticulum (ER). They synthesize_proteins. The ER is a series of interconnecting flattened tubular channels. The ER takes two forms: rough ER and smooth ER. The smooth ER plays a role in lipid synthesis. The rough ER has ribosomes attached and plays a role in protein synthesis, protein, and protein folding. Small vesicles containing newly synthesized protein separate from the ends of the rough ER. The vesicles are used to ship them to other parts of the cell or to the outside of the cell. They can also be shipped to the Golgi apparatus for further protein factory is often used as an analog for the cell. A factory converts raw materials to useful products much like the cell does. The factory has different components, offices, and staff persons that carry on different functions in order to make the product and keep the factory running smoothly. This is true of the cell as well in that it has different organelles performing different functions. The various organelles all have a specific role in the smooth functioning of the cell. If an organelle of the cell is damaged, the cell can't function properly and it may not function at all. Since the cell is the basic building block of an organism, poorly or non-functioning organelles will impact the health of the entire organism. “Now I get it! Each cell in our body is like a little factory and the organelles are like parts of the factory. Mitochondria are key organelles that produce energy for the factory to run. Without energy the cellular factories can't function.” exclaimed Kenneth. At that point. Kenneth realized he had been up most of the night. He decided to go to bed and share what he had learned with Vicki in the morning. Questions What organelle is responsible for energy production in the cell? What do you think will happen to the cell and the organism over time if it can't produce energy? • Explain in your own words why defects in this energy producing organelle would lead to the symptoms seen in Nicole Part IV–Treatment and Prognosis Kenneth and Vicki drove back to the hospital early the next day. Nicole's condition was stable. The doctor sat down with them to discuss the next steps. “Nicole should undergo genetic testing in order to determine which mutation she has. This will make it easier to forecast how quickly the disease will progress. There are at least 26 defects that can cause this disease. They have different modes of inheritance depending on the mutation and defective proteins involved.” the doctor stated. The main commonality, however, is all of the mutations and defective proteins affect the energy producing functions of the mitochondria.” “You stated that most people with this disorder die within a couple years but some may live longer. Is there anything we can do treatment-wise to prolong her life?” Vicki asked. “Most of the treatments for Leigh Disease are supportive, as there isn't a cure. The main form of treatment includes thiamine or Vitamin B1 supplements. The B vitamins play an important role in metabolism of carbohydrates into cellular energy, the main process affected in people with Leigh Disease. It may also strengthen the immune system and improve the body's ability to withstand stress,” the doctor explained. “A high-fat, low carbohydrate (ketogenic) diet may also be useful if it turns out that Nicole has the X-linked form of the disease. This version of the disease has a different set of proteins mutated than the autosomal recessive form of the disease. In addition to what I've mentioned, other treatment goals will include providing relief from specific symptoms such as reducing lactic acid build-up, controlling seizures, reducing nausea, and reducing vomiting. It is important that you take as many precautions as reasonably possible to minimize Nicole's exposure to other people who are sick with colds and other communicable illnesses as illness will exacerbate Nicole's illness,” the doctor explained. “I just can't believe how one tiny defective cell part can be so catastrophic! Are there other examples of defective cellular organelles causing disease?” asked Kenneth. “Yes. There are a whole host of disorders caused by defective cellular organelles,” replied the doctor. He then went on to name some along with their symptoms. er Questions 13 Why does the doctor want Nicole to undergo genetic testing? How will this help Nicole? 14.What is the primary treatment for Leigh Disease? What other treatments are used? 15 The doctor named the syndromes and diseases listed below. Using what you have learned about cellular organelles, complete the table by matching the disease or syndrome with the affected organelle using the symptoms and the organelles normal function as clues. Disease Affected Sandro Svenptoms Organelle Normal Function Organelle me Chokingly thick mucus in the Cystic lungs: frequent lung infections: clogged pancreas: digestive Fibrosi Regulates the movement of problems; salty sweat; faulty materials in and out of the cell. calcium and chlorine channel proteins. Buildup of fatty acids in the Break down fatty acids and toxic ALD brain and spinal cord: lethargic. cell products. weak, dizzy: loss of limb control Buildup of excess glycogen within muscle cells: extreme Pompe muscle weakness and a “floppy” Break down macromolecules. appearance: breathing difficulties, trouble feeding. Breathing problems: serious Kartag sinus, ear, and/or lung Movement of material in lungs and fallopian tube. infections; infertility ener Part V-History Repeats Kenneth and Vicki left the hospital determined to make whatever time Nicole had left as happy and healthy as possible. Initially the increased amount of thiamine vitamin in her diet seemed to help, but that eventually stopped working. Kenneth and Nicole did what they could to minimize Nicole's exposure to germs that could make her ill. They tried experimental treatments. Unfortunately, despite their best efforts, the disease progressed rapidly. At the age of three, Nicole succumbed to her illness. She died at home with her Mom and Dad by her side.