Diamond Blackfan anemia (DBA) is a rare, dominantly inherited syndrome character
ID: 79293 • Letter: D
Question
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.
Based on the given information, provide a brief discussion addressing how the following are potentially effected or play a role in the above diagnosis (a) DNA replication (b) Cell Division (c) Transcription (d) Translation.
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 ribosomesExplanation / Answer
Bone marrow is the generative part of the body which is actively engaged in generation of various blood cell types along with platelets and red blood cells. Any disorder of bone marrow which might cause it fail to develop the cell types can immediately lead to various defects related to blood and thus, life threatening diseases such as cancer. The disorder DBA arises due to dominantly inherited syndrome due to mutation in genes encoding for ribosomal protein. It must be carefully noted here that the ribosomal proteins are structural proteins which are required for assembly of the translational machinery in the cell. Any defect in this machinery can directly halt protein synthesis although cellular division might continue. Thus, this situation can led to cancerous development in the bone marrow tissue. Thus the effects can be found as below:
a) DNA replication: Since the ribosomal assembly is disrupted but no effect has been produced on cellular division, DNA replication continues normally. Infact, the rate of DNA replication can increase as an acclimatization strategy of the cells in order to produce the required proteins since the translational machinery fails to do so.
b) Cell division: Since rate of DNA replication increases, the rate of cellular divison also increases. This gives rise to a cancerous growth in the bone marrow and the bone cells.
c) Transcription: As the rate of DNA replication is increased, the rate of transcription is also increased many-folds to produce the proteins of interest.
d) Translation: Since the disease causes failure of generation of ribosomal proteins, the rate of translation is signficiacantly reduced. This causes the overall rate of protein synthesis to decline in these patients.
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