Role of Proteins in Disease?

📌 CONCEPT: Proteins play a crucial role in various physiological processes, and their malfunction can lead to severe diseases in humans.

📐 RULE / FORMULA: Mutations in protein-coding genes can cause structural and functional changes in proteins, leading to disease development.

💡 WORKED EXAMPLE: Sickle cell anemia is a genetic disorder caused by a mutation in the hemoglobin protein. This mutation leads to the production of abnormal hemoglobin, which causes red blood cells to become misshapen and break down. Cystic fibrosis is another disease caused by a mutation in the CFTR protein, leading to thick and sticky mucus production that clogs the lungs and digestive system.

⚠️ COMMON MISTAKE: Students often fail to understand that a single mutation in a protein-coding gene can have a significant impact on the structure and function of the protein, leading to disease development.