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The researcher said that not everyone has an equal chance of getting heart attacks, and not everyone gets atherosclerosis due to diet. This could also happen due to genetic disorders. For instance, a person can eat fatty food and still be in perfect health. But another person consuming the same level of fatty food could be very susceptible to cardiac attacks. Familial Hypercholesterolemia (FH) is an inherited genetic disorder that causes dangerously high levels of LDL or bad cholesterol. FH is one of the most common genetic disorders that affect the heart and blood vessels, affecting 1 in 250 people. By understanding the underlying molecular mechanisms, we can treat this disorder.
Practice question: Which of the following statements about FH is correct?
The students understand the importance of this knowledge in the context of the human health. They still had questions though: “But beyond changing our lifestyle, how does learning these things help us actually do something about it. Can we engineer solutions for this and apply it somehow?”
The researcher said that is for instance what he does. He uses his fundamental knowledge about biomolecules, cells and molecular biology to help save human lives. And he doesn’t need to be a doctor or a medical person to do this. He is a biological systems engineer, and he specializes on nanotheranostics to help achieve this.
Practice question: The research fellow believes that only doctors or medical professional can contribute to solutions in human health?
A 30-year-old patient underwent a biopsy of the submandibular salivary gland in the ENT department due to significant swelling of unclear origin. This eventually proves to be histologically normal. What is this sample most likely to look like?
A 17-year-old female patient has gradually developed symptoms such as fatigue, weakness, dyspnea on exertion and impaired performance over several months. These symptoms gradually worsen over the last year or so. She now comes for intense right hip pain. On further questioning, she indicates frequent epistaxis (nosebleeds) and easy development of bruises. During the physical examination, the physician notes striking pallor of the skin and mucous membranes, tachycardia as well as hepatomegaly (enlargement of the liver) and splenomegaly (enlargement of the spleen). Laboratory findings confirm the presence of anemia and thrombocytopenia. A special finding is the picture of the so-called Erlenmeyer flask deformity of the diaphyses of the femurs. This sign is already suggestive to the physicians and the determination of low activity of the enzyme β-glucocerebrosidase in isolated leukocytes confirms the diagnosis of Gaucher disease. Gaucher disease is an inherited lysosomal storage disease that is caused by a genetic defect in the lysosomal enzyme glucocerebrosidase. This enzyme is responsible for the hydrolytic cleavage of glucosylceramide to glucose and ceramide. What is the function of lysosomes? What will their failure lead to in the cell?