Little Girl Lost: A Case Study on WS ra RGN EAS ay ay Tracie Y, Hudson Pe Cy DSTO Rene as Part |— Bringing Home Baby After many years of trying to get pregia.s 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 i had taken five years for Vick Kenneth, she’s so beautiful! She has your mom's nose!” Vicki remarked to her husband. she has your eyes!” Kenneth responded. ine help Both the but worry | of her developmental milestones. However, at For the first three months, baby Nic SI m le four months old she developed a severe vr. body tried to fight the infection, Nicole sucking and he should. She appeared to have gan vomitin nuously. These symptoms are not hese symptoms seemed very similar to what had happened pri c What is going on? I can msel Kenneth and Vicki rushed N ce. As the d i rdered metabolic screening of imaging). While waitin he result first child elied mysteriously at 12 month: ik A shore time later, the results of the blood and uri b elevated plasma lactate and pyruvate levels. The MRI sh ‘ ally symmetric lesions in the basal ganglia and brain stem. The failure to thrive, re nt juring a viral infection, vomiting, and seizure suggested that multiple organ systems w Questions 1, What does the phrase “failure to thrive What are some reasons why newhorn babics “fal wo thrive"? red Nicole’ deterioration? I ipeapers Sel sparta bes sg 0 Whe rca a 5. What werd the results of the metabolic ests and MRI? b 5 ~ tte beset Jangli ate EE She ” esis te basal Janie “Lite Git Low” by Tick ¥. Hndson Page 1x . Most cases of Leigh with a nuclear mutation in the ne. This leads co a defect in a protein found in ‘organelles responsible for energy production. Since these organelles are found in all cell, 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 oareced reece child was almost too much to bear. ‘They sat quicily as the !m4ehence 2h chance 3094 chonce doctor recommended that they undergo genetic tes\ing a Figure 1. Awcosomal Recessive Inheritance, Source: Colin ML. as genetic counseling ime, hep/commons kia rik Fle Aworcese Questions 1. What was Njcoles diagnosis? What gene mu ‘obably involved? aa th ne SURED eee 2. The mutation described above afects a protein commonly found in celular organelles involved in energy production. What organelle would this most likely be? wBehaar “Sc8e 3, How many people are born with Leigh Syndrome (LS)? 350 c the expected lifespan for LS sufferers? ae 5. How is ic that Vicki and Kenneths daughter could have inherited LS even though neither of her paren sulfes Pe: thicate ‘ nonworeng COPy Ot Cadena ll 66, Whac is the probability that they would have another affected child? What isthe probability that chey have another child who isa caries , 2) Ba wield nn peoter q ROSIER the probabilicy of having a child that docsat 1109 0 1, a eae of AY ea ("4 chante . Loving @ GnomeFipere2, Animal call adapted from hep wikiiecAnimal_Cal_Unannorred- se, pol arganisms are made of one or more cell Cells contain thin a cell that has aspecifc function. The along with ther functions. Features of Plant and Animal Cells: organelles. Organelles are defined asa specialized subunit *informasion below describes the various organelles found in cl Calls have « nucleus. The nuclews controls the cells activities. Ako contained within the nucleus is the nucleolus, The nucleolus is used in the production of ribosomes. The nucleus aio contains the chromatin. Chromatin is uncondensed DNA and serves as the blueprint for controlling the ell’ functions and for building more cel Outside the nucleus isthe cytoplasm. This aqueous material contains numerous other organelles. Ribosomes ve found floating in che cytoplasm or attached to the endoplasmic reticulum (ER). They synthesize proteins. The ER isa series of interconnecting flattened rubular channels. The ER takes ‘wo forms: rough ER and smooth ER. The smooth ER plays a role én lipid synthesix. The rough ER hus ribosomes attached and plays a role in protein synthesis, protein, and protein ld saa vesicles containing newly synthesized protein separate from the ends ofthe t ‘used to ship them to other parts ofthe cell orto the ouside ofthe cell. Ty cn ala Golgi apparatus for furcher protein modification, sorting, and packaging. The seach of membranos flere acs and sively asacated with he endolasme reiubam‘components such «s microtubules, actin, ts play numerous roles in the cll such as support, structure, and movement. es are found in cilia (minute hair-like organelles involved in movement of mucus out of Poe the fallopian tube), and flagella (similar to cilia but longer and typically ind on sperm), Lastly cells have a cell membrane. The thin membrane is exential in controlling exchange besween the cell and its environment. It ats as a very efficient barrier, but abo allows a controlled traffic of ‘raterials acres it in both directions. The membrane is therefore considered as partially semi-permeable, Tr allows some materials to pass but not others, “So an organelle is kind of like a miniature o gan of the cell that docs something special for the cell,” Kenneth said out loud, He then skimmed throu igh the information again to find the “cellular organelles responsible for energy production” thar the doctor referred to when explaining Nicole's condition. “Prom the information I just read, the ‘mitochondria is involved in energy production for the cell. So this must be the defective organelle that the doctor ‘was referring tol” Kenneth exclaimed excitedly. “But how could this one tiny defective organelle cause the range of problems that Nicole has,” he wondered. Kenneth decided to do some more research. While researching, he found the following information. r Understanding the Structure and Function of the Cell: in order to understand the organization of the cel and remember the various cellular organelles i be wef to use an analogy. An analogy compares something new with somet he known concept is the analog and the log forthe cell. A factory converts raw ‘as diferent components, offices, and tenknown concept is the target. A f materials to wsefid products much like 1) staff persons that carry on differen furct nate the product and keep the factory running smoothly. This is true ofthe cell as we s different organelles performing diferent functions The various organelles all have a specifi role in she smooth functioning of the cell Ifan organelle of the cell is damaged, the cell cant function property and it may not function at all. Since the cell is the sie building block of an organicm. poorly or non-functioning organelle will impact the health of the entire organism. “Now I get it! Each cell in our body slike a little factory and the organelles are like pars ofthe Factory. Mitochondria. are key organelles that produce energy for the factory to run. Without energy the cellular factories cant function? exclaimed Kenneth. At that point, Kenneth realized he had been up most ofthe night. He decided to go to bed and share what he had learned with Vicki in the morning, is resp ible for energy production in the cell? eens ee il the organism over time if it can't produce ariass lander, Cusetan mend epee wy detces in cs ches yrodcng camel ean Be fedtect conn: me tna eiiOH aganelles Prey reo prot Tiara, (poten porte wee br Mos surtbesi peste. ekege “Mitochondria Cell membranesymptoms such as reducing lactic acid build-up, controling seizures, reducing nausea, and reducing voriting. It is important that you take as many precautions a5 Aeasonably possible to minimize Nicole's exposure o other people who are sick with colds and other communicable’ illnesses as illness will exacerbate Nicole’ illness,” the doctor explained. “Vjust cant believe how one tiny defective cel part can beso catastrophic! Are cher other examples of defective cellular organelles causing disease?” asked Kenneth cs. There area whole host of disorders caused by defective cellular organelles” replied the doctor. He then went on to ‘name some along with their symptoms Questions 1. Why. docs the doctor want Nicole to undeigo genetic testing? How will this help Nicole? to divas wo ee RS ~ ce ity treatment for Leigh Disease? What other treatments are used? Sie docen gamed the spidiortes “oa ai wv. Using what you have learned about cellular organelles, complete the table by matching the ds syndrome with the affected organelle using the symptoms and the organelles normal fur, Symptoms OrganelleNormal Function | affected Organlie ‘smdrohe fe nil ‘ Gre | Choking ick mucin clang su lang | Replace moremeae PQ infections, dogged pancreas; digestive problems; salty | of materials in and out of | CP eat fay lcm and clornechanel prin | ed” | eorndeamy Build up offaty acid in the bran and spinal cord; | Break down Fay adda lethargic, weak, dizzy; loss of limb contol and toxic ell products, Build up of excess glycogen within muscle cis Break down macromol- ‘extreme muscle weakness and a “floppy” appearance; —_| ecules, Jasosemee bathing dfcultis, wouble feeding, Breathing problems; serious sinus, ea, and/or lng | Movement of matedal fn infections: inferily, Jungs and fallopian cube, Fecori somesh ‘org/sitelc.84KOJOMvF7LUG/b. 7934629 /kACOB/Types_o} | Home Reference. Leigh Syndrome. hhutp://ghr:nlm.nih.gov/condition/leigh-syndrome Geneties Home Reference. Zellweger Spectrum Disorder. ‘hurp:/ghr.nlm.nih.gov/condition/zellweger-spectram National Institute of Neurological Disorders and Stroke, NINDS Leigh's Disease Information Page. Iheap://wvww.ninds.nih. gov/disorders/leighsdiseaseleighsdisease-hem National Organization for Rare Disorders. Leigh Syndrome. Ihups//rarediseases.org/rare-diseases/leigh-syndrome! McGraw Hill Education—Human Physiology 6° ed. Additional Readings. Jntep://swvw.mbhe.com/biosci/ap/foxhumphys/student/olc/h-reading10.heml ABC News. Texas Boy Battles Rare Leigh's Disease. October 3, 2012. Intep://abcnews.go.com/Health/ Wellness/texas-boy-battles-rare-leighs-disease/story2id=17375005 “Note: The references listed above were accessible June 23, 2015.