What malfunctioned organelle causes tay sachs disease

Activity Organelles and Illness Imagine that you are part of a research team that specializes in diagnosing disorders associated with malfunctioning cellular organelles and structures. Medical doctors consult your group to help diagnose particularly difficult cases. Work in small collaborative groups of four to provide a cellular explanation for the cases below. Each person in the group will act as the ‘facilitator’ for one case, leading the group discussion, promoting input from each of the other students (who will be acting as ‘discussants’) and formalizing the group response. In the role of a discussant, students provide their knowledge, experience and perspectives, compare and contrast the inputs of other members of the group and collaborate in the formulation of the group response. At the end of the activity, you may be called on to present your group’s answers to one of the cases (not necessarily the one you were the facilitator for). You will act as both a facilitator and a discussant in the activity. 1.) _______________________________ (Facilitator) Organelle Research Group Patient History: o Seven year-old male o Fatigue o Muscle weakness o Low endurance o Loss of coordination o Progressive difficulty walking Physical Examination o Muscle loss & deformity o Awkward gait o Difficulty breathing Laboratory Results o Cells have abnormal shape o Cell division is abnormal o Impaired intracellular movement of materials Diagnosis o Malfunctioning Organelle: ___________________________ o Rationale for Diagnosis (explanation of how history, physical examination and laboratory results suggest diagnosis ): Activity 2.) _______________________________ (Facilitator) Patient History: o 55 year-old female o Excellent health to date o Recent onset of:  Fatigue  Headaches  Excessive salivation  Nausea  Vomiting o Psychological stress  Recently won lottery  Marital stress     Organelle Research Group Diarrhea Vertigo Abdominal pain Weight loss Physical Examination o Swelling of eyelids o Partial limb paralysis o Hyperkeratosis (increased pigmentation) of skin on palms & soles o White banding on fingernails o Muscle weakness Laboratory Results o Low levels of ATP production o Unusually high levels of arsenic o Abnormal levels of cell death—not due to apoptosis (programmed cell death)—rather cell death appears to be due to lack of energy to maintain homeostasis due to low ATP levels. Diagnosis o Malfunctioning Organelle: ___________________________ o Rationale for Diagnosis (explanation of how history, physical examination and laboratory results suggest diagnosis): Activity 3.) _______________________________ (Facilitator) Organelle Research Group Patient History: o 2-day old male o Low birth-weight (4pds. 5 ounces) o Difficulty suckling/swallowing o Seizures o Gastrointestinal bleeding Physical Examination o Enlarged liver o Low muscle tone/inability to move o Glaucoma o Facial deformities o Impaired hearing o Jaundiced skin Laboratory Results o High levels of hydrogen peroxide in cells o High levels of fats and amino acids in cells Diagnosis o Malfunctioning Organelle: ___________________________ o Rationale for Diagnosis (explanation of how history, physical examination and laboratory results suggest diagnosis ): Activity 4.) _______________________________ (Facilitator) Organelle Research Group Patient History: o o o o o 42 year-old male No major health issue to date Notable increase in weight over past month—gain of 17 pounds Recent lethargy Patient is on a new eating regimen—every meal is from a ‘fast-food’ restaurant Physical Examination o Enlarged liver o Muscle weakness Laboratory Results o Negative for hepatitis o Excessive glycogen granules in liver o High levels of fat in liver—abnormal fat metabolism o Low testosterone levels o Abnormal cell calcium balance Diagnosis o Malfunctioning Organelle: