Question

BONUS: Diamond Blackfan anemia (DBA) is a rare, dominantly inherited syndrome characterized by bone marrow failure, birth defects, and a significant predisposition to cancer Those affected with DBA usually develop anemia in the first year of life, have abnormal numbers of cell types in their bone marrow, and have an increased risk of developing leukemia and bone cancer. At the molecular level, DBA is caused by a mutation in any of 11 genes that encode ribosomal proteins. The common feature of all these mutations is the disruption of ribosome formation, ultimately affecting the stability or function of ribosomes. Many questions about this disorder remain a. Given the central importance of ribosomes in maintaining life, how is it possible that individuals carrying mutations in ribosomal proteins survive? (1 pt) b. Why might some cells in the body, such as those in bone marrow, be more susceptible to ribosomal protein mutations than other cells? (1 pt) c. DBA exhibits variable penetrance with significant differences in the clinical symptoms. How does this provide a way of studying the molecular events that cause this disorder? (up to 2 pts)

Answer 1

a) ribosomes involved in protein synthesis, the mutation in these ribosomal protein cause the developmental abnormalities such as growth retardation, orofacial, hand or limb malformations, urogenital anomalies, and heart defects. DBA is the mutation of the ribosomal protein S19 gene so there are many other proteins who helps to survive individual carrying this genetic syndrome.

b) bone marrow is more susceptible to the ribosomal protein mutation because bone marrow cells produce many other types of blood cells like RBC, WB, and platelets. so these cells