Defect in Snurps causes-
**Core Concept**
Snurps (Small Nucleolar RNA-Associated Proteins) play a crucial role in ribosomal RNA (rRNA) processing and modification. They are involved in the maturation of ribosomal RNA, which is essential for the assembly and function of ribosomes, the cellular machinery responsible for protein synthesis. A defect in Snurps can lead to impaired rRNA processing, resulting in abnormal ribosome formation and function.
**Why the Correct Answer is Right**
Thalassemia is a genetic disorder characterized by impaired hemoglobin synthesis, which is directly related to ribosomal function. In thalassemia, mutations in the genes encoding Snurps lead to aberrant rRNA processing, causing a reduction in the production of functional ribosomes. As a result, the synthesis of globin chains is impaired, leading to the accumulation of abnormal hemoglobin and the characteristic clinical manifestations of thalassemia.
**Why Each Wrong Option is Incorrect**
**Option A:** Sickle cell anemia is caused by a point mutation in the HBB gene that codes for the beta-globin subunit of hemoglobin. This mutation affects the structure and function of hemoglobin, leading to the characteristic sickling of red blood cells, but it is not related to Snurps or rRNA processing.
**Option C:** Marfan syndrome is a genetic disorder caused by mutations in the FBN1 gene, which codes for fibrillin-1. This protein is essential for the formation of elastic fibers in connective tissue. While Marfan syndrome affects multiple systems, it is not related to Snurps or ribosomal function.
**Option D:** Ehlers-Danlos syndrome (EDS) is a group of genetic disorders caused by mutations in genes encoding collagen, elastin, and other proteins involved in connective tissue. While EDS affects multiple systems, it is not related to Snurps or ribosomal function.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that defects in Snurps can lead to impaired rRNA processing and abnormal ribosome formation, which can have far-reaching consequences for protein synthesis and cellular function. In the context of thalassemia, this defect results in impaired globin chain synthesis and the accumulation of abnormal hemoglobin.
**β Correct Answer: B. Thalassemia**